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<meta name="keywords" content="C0016756, baker-winegrad disease, deficiencies, fructose-1,6-bisphosphatase, deficiencies, fructose-1,6-diphosphatase, deficiencies, fructose-biphosphatase, deficiencies, fructosediphosphatase, deficiency, fructose-1,6-bisphosphatase, deficiency, fructose-1,6-diphosphatase, deficiency, fructose-biphosphatase, deficiency, fructosediphosphatase, disease or syndrome, fbp1, fbp1d, fbpase deficiency, fructose 1 phosphate aldolase deficiency, fructose 1,6 bisphosphatase deficiency, fructose 1,6 diphosphatase deficiency, fructose biphosphatase deficiency, fructose-1,6-bisphosphatase deficiencies, fructose-1,6-bisphosphatase deficiency, fructose-1,6-diphosphatase deficiencies, fructose-1,6-diphosphatase deficiency, fructose-biphosphatase deficiencies, fructose-biphosphatase deficiency, fructosediphosphatase deficiencies, fructosediphosphatase deficiency, hereditary fructose-1,6-phosphatase deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Fructose-1,6-bisphosphatase (FBP1) deficiency is characterized by episodic acute crises of lactic acidosis and ketotic hypoglycemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Acute crises are most common in early childhood; nearly half of affected children have hypoglycemia in the neonatal period (especially the first 4 days) resulting from deficient glycogen stores. Factors known to trigger episodes include fever, fasting, decreased oral intake, vomiting, infections, and ingestion of large amounts of fructose. In untreated individuals, symptoms worsen progressively as continued catabolism leads to multiorgan failure (especially liver, brain, and later heart). Morbidity and mortality are high. Sepsis, blindness, and Reye syndrome-like presentation have been reported. In between acute episodes, children are asymptomatic. While the majority of affected children have normal growth and psychomotor development, a few have intellectual disability, presumably due to early and prolonged hypoglycemia." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=42106
|
||
ConceptID=C0016756
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK550349/bin/fructose1-6-def-Image001.gif" src-large="/books/NBK550349/bin/fructose1-6-def-Image001.jpg" /></a><br /><a href="/books/NBK550349/figure/fructose1-6-def.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Fructose-biphosphatase deficiency<span class="h1sub">(FBP1D)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42106</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0016756</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Baker-Winegrad disease; FBP1D; Fructose 1,6 Bisphosphatase Deficiency; Fructose-1,6-Diphosphatase Deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Fructose-1,6-bisphosphatase deficiency (28183005); Fructose-biphosphatase deficiency (28183005); Fructose-1,6-diphosphatase deficiency (28183005); Hereditary fructose-1,6-phosphatase deficiency (28183005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FBP1 - ID: 2203 - NCBI Gene" href="/gene/2203" class="medgenPMinfo">FBP1</a> (9q22.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009251" target="_blank">MONDO:0009251</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/229700" target="_blank">229700</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=348">ORPHA348</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK550349" target="_blank">Fructose-1,6-Bisphosphatase Deficiency</a></div><div>Fructose-1,6-bisphosphatase (FBP1) deficiency is characterized by episodic acute crises of lactic acidosis and ketotic hypoglycemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Acute crises are most common in early childhood; nearly half of affected children have hypoglycemia in the neonatal period (especially the first 4 days) resulting from deficient glycogen stores. Factors known to trigger episodes include fever, fasting, decreased oral intake, vomiting, infections, and ingestion of large amounts of fructose. In untreated individuals, symptoms worsen progressively as continued catabolism leads to multiorgan failure (especially liver, brain, and later heart). Morbidity and mortality are high. Sepsis, blindness, and Reye syndrome-like presentation have been reported. In between acute episodes, children are asymptomatic. While the majority of affected children have normal growth and psychomotor development, a few have intellectual disability, presumably due to early and prolonged hypoglycemia. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Summary" target="NBK550349">Summary</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Diagnosis" target="NBK550349">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Clinical_Characteristics" target="NBK550349">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Genetically_Related_Alle" target="NBK550349">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Differential_Diagnosis" target="NBK550349">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Management" target="NBK550349">Management</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Genetic_Counseling" target="NBK550349">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Resources" target="NBK550349">Resources</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Molecular_Genetics" target="NBK550349">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.Chapter_Notes" target="NBK550349">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK550349#fructose1-6-def.References" target="NBK550349">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Sunita Bijarnia-Mahay | Sameer Bhatia | Veronica Arora <a href="/books/NBK550349" target="NBK550349" title="NCBI Bookshelf: Fructose-1,6-Bisphosphatase Deficiency">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis (Kikawa et al., 1997; Matsuura et al., 2002). <a target="_blank" href="http://www.omim.org/entry/229700">http://www.omim.org/entry/229700</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_388667"><div><strong>Increased urinary glycerol</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388667</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2673558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of glycerol in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388667">Feature record</a> | <a href="/medgen?term=%22Increased%20urinary%20glycerol%22%5BClinical%20Features%5D%20OR%20388667%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21453"><div><strong>Tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21453</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rapid heartrate that exceeds the range of the normal resting heartrate for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21453">Feature record</a> | <a href="/medgen?term=%22Tachycardia%22%5BClinical%20Features%5D%20OR%2021453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1054"><div><strong>Coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0009421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1054">Feature record</a> | <a href="/medgen?term=%22Coma%22%5BClinical%20Features%5D%20OR%201054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7310"><div><strong>Lethargy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7310</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7310">Feature record</a> | <a href="/medgen?term=%22Lethargy%22%5BClinical%20Features%5D%20OR%207310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_397841"><div><strong>Irritability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2700617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A proneness to anger, i.e., a tendency to become easily bothered or annoyed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Irritability%22%5BClinical%20Features%5D%20OR%20397841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3938"><div><strong>Dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3938</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3938">Feature record</a> | <a href="/medgen?term=%22Dyspnea%22%5BClinical%20Features%5D%20OR%203938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9377"><div><strong>Hyperventilation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9377</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9377">Feature record</a> | <a href="/medgen?term=%22Hyperventilation%22%5BClinical%20Features%5D%20OR%209377%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7206"><div><strong>Ketosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7206</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022638</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of elevated levels of ketone bodies in the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7206">Feature record</a> | <a href="/medgen?term=%22Ketosis%22%5BClinical%20Features%5D%20OR%207206%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65117"><div><strong>Metabolic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65117</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65117">Feature record</a> | <a href="/medgen?term=%22Metabolic%20acidosis%22%5BClinical%20Features%5D%20OR%2065117%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1842090"><div><strong>Reduced tissue fructose-1,6-bisphosphatase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842090</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5826819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1842090">Feature record</a> | <a href="/medgen?term=%22Reduced%20tissue%20fructose-1%2C6-bisphosphatase%20activity%22%5BClinical%20Features%5D%20OR%201842090%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7206" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ketosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metabolic acidosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1842090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced tissue fructose-1,6-bisphosphatase activity</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachycardia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_388667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased urinary glycerol</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_397841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irritability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethargy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyspnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperventilation</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0016756[DISCUI]&test_type=Clinical" ref="ncbi_uid=42106">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=42106" target="_blank" href="/omim/229700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK550349/" ref="ncbi_uid=42106">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=42106" ref="ncbi_uid=42106">V</a></span></span><span class="TLline">Fructose-biphosphatase deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/575202" ref="tree=MeSH" title="MedGen record for Disorder of fructose metabolism">Disorder of fructose metabolism</a></span><ul><li><span class="matched_ds">Fructose-biphosphatase deficiency</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=676&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Fructose-biphosphatase deficiency</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37507476">Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakuma I,
|
||
Nagano H,
|
||
Hashimoto N,
|
||
Fujimoto M,
|
||
Nakayama A,
|
||
Fuchigami T,
|
||
Taki Y,
|
||
Matsuda T,
|
||
Akamine H,
|
||
Kono S,
|
||
Kono T,
|
||
Yokoyama M,
|
||
Nishimura M,
|
||
Yokote K,
|
||
Ogasawara T,
|
||
Fujii Y,
|
||
Ogawa S,
|
||
Lee E,
|
||
Miki T,
|
||
Tanaka T</span><br />
|
||
<span class="medgenPMjournal">Commun Biol</span>
|
||
2023 Jul 28;6(1):787.
|
||
doi: 10.1038/s42003-023-05160-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37507476" target="_blank">37507476</a><a href="/pmc/articles/PMC10382519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29370874">International practices in the dietary management of fructose 1-6 biphosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto A,
|
||
Alfadhel M,
|
||
Akroyd R,
|
||
Atik Altınok Y,
|
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Bernabei SM,
|
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Bernstein L,
|
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Bruni G,
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Caine G,
|
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Cameron E,
|
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Carruthers R,
|
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Cochrane B,
|
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Daly A,
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de Boer F,
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Delaunay S,
|
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Dianin A,
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Dixon M,
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Drogari E,
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Dubois S,
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Evans S,
|
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Gribben J,
|
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Gugelmo G,
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Heidenborg C,
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Hunjan I,
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Kok IL,
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Kumru B,
|
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Liguori A,
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Mayr D,
|
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Megdad E,
|
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Meyer U,
|
||
Oliveira RB,
|
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Pal A,
|
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Pozzoli A,
|
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Pretese R,
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Rocha JC,
|
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Rosenbaum-Fabian S,
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Serrano-Nieto J,
|
||
Sjoqvist E,
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||
Timmer C,
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White L,
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van den Hurk T,
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van Rijn M,
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Zweers H,
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||
Ziadlou M,
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||
MacDonald A</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Jan 25;13(1):21.
|
||
doi: 10.1186/s13023-018-0760-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29370874" target="_blank">29370874</a><a href="/pmc/articles/PMC5785792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4341454">"Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene HL,
|
||
Stifel FB,
|
||
Herman RH</span><br />
|
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<span class="medgenPMjournal">Am J Dis Child</span>
|
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1972 Sep;124(3):415-8.
|
||
doi: 10.1001/archpedi.1972.02110150113019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4341454" target="_blank">4341454</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fructose-biphosphatase%20deficiency)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35179010">Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emecen Sanli M,
|
||
Cengiz B,
|
||
Kilic A,
|
||
Ozsaydi E,
|
||
Inci A,
|
||
Okur I,
|
||
Tumer L,
|
||
Lebigot E,
|
||
Ezgu F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2022 Apr 26;35(4):497-503.
|
||
Epub 2022 Feb 18
|
||
doi: 10.1515/jpem-2021-0732.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35179010" target="_blank">35179010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687058">Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorce M,
|
||
Lebigot E,
|
||
Arion A,
|
||
Brassier A,
|
||
Cano A,
|
||
De Lonlay P,
|
||
Feillet F,
|
||
Gay C,
|
||
Labarthe F,
|
||
Nassogne MC,
|
||
Roche S,
|
||
Roubertie A,
|
||
Sacaze E,
|
||
Touati G,
|
||
Broué P</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 Mar;45(2):215-222.
|
||
Epub 2021 Dec 1
|
||
doi: 10.1002/jimd.12452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687058" target="_blank">34687058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20955963">Inborn errors of carbohydrate metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayatepek E,
|
||
Hoffmann B,
|
||
Meissner T</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
|
||
2010 Oct;24(5):607-18.
|
||
doi: 10.1016/j.bpg.2010.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20955963" target="_blank">20955963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2983059">Long-term evolution of glycerol intolerance syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fort P,
|
||
Wapnir RA,
|
||
De Rosas F,
|
||
Lifshitz F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1985 Mar;106(3):453-6.
|
||
doi: 10.1016/s0022-3476(85)80679-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2983059" target="_blank">2983059</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/192069">Fructose-1,6-diphosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopwood NJ,
|
||
Holzman I,
|
||
Drash AL</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1977 Apr;131(4):418-21.
|
||
doi: 10.1001/archpedi.1977.02120170044009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/192069" target="_blank">192069</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fructose-biphosphatase%20deficiency%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38273074">An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Doğruel H,
|
||
Aydemir M,
|
||
Yılmaz N,
|
||
Sarı R</span><br />
|
||
<span class="medgenPMjournal">Ir J Med Sci</span>
|
||
2024 Jun;193(3):1267-1273.
|
||
Epub 2024 Jan 25
|
||
doi: 10.1007/s11845-024-03614-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38273074" target="_blank">38273074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687058">Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorce M,
|
||
Lebigot E,
|
||
Arion A,
|
||
Brassier A,
|
||
Cano A,
|
||
De Lonlay P,
|
||
Feillet F,
|
||
Gay C,
|
||
Labarthe F,
|
||
Nassogne MC,
|
||
Roche S,
|
||
Roubertie A,
|
||
Sacaze E,
|
||
Touati G,
|
||
Broué P</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 Mar;45(2):215-222.
|
||
Epub 2021 Dec 1
|
||
doi: 10.1002/jimd.12452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687058" target="_blank">34687058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11032338">False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lund AM,
|
||
Leonard JV</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2000 Sep;23(6):634-5.
|
||
doi: 10.1023/a:1005690215265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11032338" target="_blank">11032338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8884571">Disorders of gluconeogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Berghe G</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1996;19(4):470-7.
|
||
doi: 10.1007/BF01799108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8884571" target="_blank">8884571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1165734">Reactive hypoglycemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hofeldt FD</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
1975 Oct;24(10):1193-208.
|
||
doi: 10.1016/0026-0495(75)90156-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1165734" target="_blank">1165734</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fructose-biphosphatase%20deficiency%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (61)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38037461">Hyperglycolysis in endothelial cells drives endothelial injury and microvascular alterations in peritoneal dialysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Si Z,
|
||
Su W,
|
||
Zhou Z,
|
||
Li J,
|
||
Su C,
|
||
Zhang Y,
|
||
Hu Z,
|
||
Huang Z,
|
||
Zhou H,
|
||
Cong A,
|
||
Zhou Z,
|
||
Cao W</span><br />
|
||
<span class="medgenPMjournal">Clin Transl Med</span>
|
||
2023 Dec;13(12):e1498.
|
||
doi: 10.1002/ctm2.1498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38037461" target="_blank">38037461</a><a href="/pmc/articles/PMC10689974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32160811">Atherogenic Lipoprotein(a) Increases Vascular Glycolysis, Thereby Facilitating Inflammation and Leukocyte Extravasation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schnitzler JG,
|
||
Hoogeveen RM,
|
||
Ali L,
|
||
Prange KHM,
|
||
Waissi F,
|
||
van Weeghel M,
|
||
Bachmann JC,
|
||
Versloot M,
|
||
Borrelli MJ,
|
||
Yeang C,
|
||
De Kleijn DPV,
|
||
Houtkooper RH,
|
||
Koschinsky ML,
|
||
de Winther MPJ,
|
||
Groen AK,
|
||
Witztum JL,
|
||
Tsimikas S,
|
||
Stroes ESG,
|
||
Kroon J</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2020 May 8;126(10):1346-1359.
|
||
Epub 2020 Mar 12
|
||
doi: 10.1161/CIRCRESAHA.119.316206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32160811" target="_blank">32160811</a><a href="/pmc/articles/PMC7208285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20955963">Inborn errors of carbohydrate metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayatepek E,
|
||
Hoffmann B,
|
||
Meissner T</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
|
||
2010 Oct;24(5):607-18.
|
||
doi: 10.1016/j.bpg.2010.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20955963" target="_blank">20955963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2983059">Long-term evolution of glycerol intolerance syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fort P,
|
||
Wapnir RA,
|
||
De Rosas F,
|
||
Lifshitz F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1985 Mar;106(3):453-6.
|
||
doi: 10.1016/s0022-3476(85)80679-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2983059" target="_blank">2983059</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/192069">Fructose-1,6-diphosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopwood NJ,
|
||
Holzman I,
|
||
Drash AL</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1977 Apr;131(4):418-21.
|
||
doi: 10.1001/archpedi.1977.02120170044009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/192069" target="_blank">192069</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fructose-biphosphatase%20deficiency%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687058">Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorce M,
|
||
Lebigot E,
|
||
Arion A,
|
||
Brassier A,
|
||
Cano A,
|
||
De Lonlay P,
|
||
Feillet F,
|
||
Gay C,
|
||
Labarthe F,
|
||
Nassogne MC,
|
||
Roche S,
|
||
Roubertie A,
|
||
Sacaze E,
|
||
Touati G,
|
||
Broué P</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 Mar;45(2):215-222.
|
||
Epub 2021 Dec 1
|
||
doi: 10.1002/jimd.12452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687058" target="_blank">34687058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20955963">Inborn errors of carbohydrate metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayatepek E,
|
||
Hoffmann B,
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Meissner T</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
|
||
2010 Oct;24(5):607-18.
|
||
doi: 10.1016/j.bpg.2010.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20955963" target="_blank">20955963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8884571">Disorders of gluconeogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Berghe G</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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1996;19(4):470-7.
|
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doi: 10.1007/BF01799108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8884571" target="_blank">8884571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7807945">Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Besley GT,
|
||
Walter JH,
|
||
Lewis MA,
|
||
Chard CR,
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Addison GM</span><br />
|
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1994;17(3):333-5.
|
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doi: 10.1007/BF00711822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7807945" target="_blank">7807945</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/192069">Fructose-1,6-diphosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hopwood NJ,
|
||
Holzman I,
|
||
Drash AL</span><br />
|
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<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1977 Apr;131(4):418-21.
|
||
doi: 10.1001/archpedi.1977.02120170044009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/192069" target="_blank">192069</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fructose-biphosphatase%20deficiency%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38789037">The glycolytic enzyme PFKFB3 drives kidney fibrosis through promoting histone lactylation-mediated NF-κB family activation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Li H,
|
||
Jiang S,
|
||
Fu D,
|
||
Lu X,
|
||
Lu M,
|
||
Li Y,
|
||
Luo D,
|
||
Wu K,
|
||
Xu Y,
|
||
Li G,
|
||
Zhou Y,
|
||
Zhou Y,
|
||
Chen W,
|
||
Liu Q,
|
||
Mao H</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2024 Aug;106(2):226-240.
|
||
Epub 2024 May 22
|
||
doi: 10.1016/j.kint.2024.04.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38789037" target="_blank">38789037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34687058">Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gorce M,
|
||
Lebigot E,
|
||
Arion A,
|
||
Brassier A,
|
||
Cano A,
|
||
De Lonlay P,
|
||
Feillet F,
|
||
Gay C,
|
||
Labarthe F,
|
||
Nassogne MC,
|
||
Roche S,
|
||
Roubertie A,
|
||
Sacaze E,
|
||
Touati G,
|
||
Broué P</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 Mar;45(2):215-222.
|
||
Epub 2021 Dec 1
|
||
doi: 10.1002/jimd.12452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34687058" target="_blank">34687058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28624442">Loss of fructose-1,6-bisphosphatase induces glycolysis and promotes apoptosis resistance of cancer stem-like cells: an important role in hexavalent chromium-induced carcinogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dai J,
|
||
Ji Y,
|
||
Wang W,
|
||
Kim D,
|
||
Fai LY,
|
||
Wang L,
|
||
Luo J,
|
||
Zhang Z</span><br />
|
||
<span class="medgenPMjournal">Toxicol Appl Pharmacol</span>
|
||
2017 Sep 15;331:164-173.
|
||
Epub 2017 Jun 15
|
||
doi: 10.1016/j.taap.2017.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28624442" target="_blank">28624442</a><a href="/pmc/articles/PMC5567692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2347355">Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bührdel P,
|
||
Böhme HJ,
|
||
Didt L</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1990 May;149(8):574-6.
|
||
doi: 10.1007/BF01957696.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2347355" target="_blank">2347355</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2122081">Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burlina AB,
|
||
Poletto M,
|
||
Shin YS,
|
||
Zacchello F</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1990;13(3):263-6.
|
||
doi: 10.1007/BF01799368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2122081" target="_blank">2122081</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fructose-biphosphatase%20deficiency%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0016756%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016756%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016756%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016756%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016756%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (37)</a></li>
|
||
<li><a href="/gtr/tests?term=C0016756%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0016756%5bDISCUI%5d" target="_blank">See all (44)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=229700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=348" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Fructose-biphosphatase%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fructose-biphosphatase%20deficiency)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=611570" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2203[geneid]" target="_blank">View FBP1 variations in ClinVar</a></li><li><a href="/nuccore/193794846" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=229700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Fructose-1%2C6-Bisphosphatase+Deficiency/2948" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/fructose_16_bisphosphatase_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Fructose-biphosphatase%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2400/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/31804789" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Fructose-biphosphatase%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Fructose-biphosphatase%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=42106" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=42106" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0016756[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0016756[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=42106" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=42106" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=42106" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=42106" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=42106" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=42106" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
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