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<!--
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UID=155558
|
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ConceptID=C0751435
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperphenylalaninemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155558</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.">C0751435</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>Hyperphenylalaninaemia; Hyperphenylalaninemia, non-pku</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyperphenylalaninemia (68528007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004923">HP:0004923</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An increased concentration of L-phenylalanine in the blood. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<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>
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<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></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=C0751435[DISCUI]&test_type=Clinical" ref="ncbi_uid=155558">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155558" ref="ncbi_uid=155558">V</a></span></span><span class="TLline">Hyperphenylalaninemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1864085" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic compound concentration">Abnormal circulating organic compound concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1684666" ref="tree=MeSH" title="MedGen record for Abnormal circulating carboxylic acid concentration">Abnormal circulating carboxylic acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/871177" ref="tree=MeSH" title="MedGen record for Abnormal circulating amino acid concentration">Abnormal circulating amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1728653" ref="tree=MeSH" title="MedGen record for Abnormal circulating proteinogenic amino acid concentration">Abnormal circulating proteinogenic amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/870891" ref="tree=MeSH" title="MedGen record for Abnormal circulating aromatic amino acid concentration">Abnormal circulating aromatic amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869249" ref="tree=MeSH" title="MedGen record for Abnormal circulating phenylalanine concentration">Abnormal circulating phenylalanine concentration</a></span><ul><li><span class="matched_ds">Hyperphenylalaninemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_19244"><div><strong>Phenylketonuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19244</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:">C0031485</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75682"><div><strong>Dihydropteridine reductase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75682</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.">C0268465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.\n\nInfants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75682">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120642"><div><strong>Dopa-responsive dystonia due to sepiapterin reductase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120642</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.">C0268468</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; symptoms show diurnal fluctuation and sleep benefit. Other common features include parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness). Most affected individuals have nonspecific features in infancy including developmental delays and axial hypotonia; other features develop over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120642">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_209234"><div><strong>6-Pyruvoyl-tetrahydrobiopterin synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209234</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.">C0878676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH; 612349), tyrosine hydroxylase (TH; 191290) and tryptophan hydroxylase (TPH1; 191060), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001). HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (233910), caused by mutation in the GCH1 gene (600225), HPABH4C (261630), caused by mutation in the QDPR gene (612676), and HPABH4D (264070), caused by mutation in the PCBD1 gene (126090). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU; 261600), caused by mutation in the PAH gene. Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (612716), caused by mutation in the SPR gene (182125), and autosomal dominant dopa-responsive dystonia (DYT5; 128230), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337890"><div><strong>Pterin-4 alpha-carbinolamine dehydratase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337890</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.">C1849700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported (Thony et al., 1998). Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty (summary by Ferre et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of BH4-deficient hyperphenylalaninemia, see HPABH4A (261640).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337890">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_988270"><div><strong>GTP cyclohydrolase I deficiency with hyperphenylalaninemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988270</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN305333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988270">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_209234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">6-Pyruvoyl-tetrahydrobiopterin synthase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dihydropteridine reductase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dopa-responsive dystonia due to sepiapterin reductase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_988270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GTP cyclohydrolase I deficiency with hyperphenylalaninemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_19244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phenylketonuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pterin-4 alpha-carbinolamine dehydratase 1 deficiency</a></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/38105685">Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou D,
|
||
Yang R,
|
||
Huang X,
|
||
Huang X,
|
||
Yang X,
|
||
Mao H,
|
||
Yang J,
|
||
Zhao Z</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2023 Dec 16;52(6):683-692.
|
||
doi: 10.3724/zdxbyxb-2023-0473.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38105685" target="_blank">38105685</a><a href="/pmc/articles/PMC10764193" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32456656">Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opladen T,
|
||
López-Laso E,
|
||
Cortès-Saladelafont E,
|
||
Pearson TS,
|
||
Sivri HS,
|
||
Yildiz Y,
|
||
Assmann B,
|
||
Kurian MA,
|
||
Leuzzi V,
|
||
Heales S,
|
||
Pope S,
|
||
Porta F,
|
||
García-Cazorla A,
|
||
Honzík T,
|
||
Pons R,
|
||
Regal L,
|
||
Goez H,
|
||
Artuch R,
|
||
Hoffmann GF,
|
||
Horvath G,
|
||
Thöny B,
|
||
Scholl-Bürgi S,
|
||
Burlina A,
|
||
Verbeek MM,
|
||
Mastrangelo M,
|
||
Friedman J,
|
||
Wassenberg T,
|
||
Jeltsch K,
|
||
Kulhánek J,
|
||
Kuseyri Hübschmann O;
|
||
International Working Group on Neurotransmitter related Disorders (iNTD)</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 May 26;15(1):126.
|
||
doi: 10.1186/s13023-020-01379-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32456656" target="_blank">32456656</a><a href="/pmc/articles/PMC7251883" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29025426">The complete European guidelines on phenylketonuria: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wegberg AMJ,
|
||
MacDonald A,
|
||
Ahring K,
|
||
Bélanger-Quintana A,
|
||
Blau N,
|
||
Bosch AM,
|
||
Burlina A,
|
||
Campistol J,
|
||
Feillet F,
|
||
Giżewska M,
|
||
Huijbregts SC,
|
||
Kearney S,
|
||
Leuzzi V,
|
||
Maillot F,
|
||
Muntau AC,
|
||
van Rijn M,
|
||
Trefz F,
|
||
Walter JH,
|
||
van Spronsen FJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 Oct 12;12(1):162.
|
||
doi: 10.1186/s13023-017-0685-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29025426" target="_blank">29025426</a><a href="/pmc/articles/PMC5639803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperphenylalaninemia%22%5Btiab%3A~0%5D)%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 (134)</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/37470789">Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams AD,
|
||
Fiesco-Roa MÓ,
|
||
Wong L,
|
||
Jenkins GP,
|
||
Malinowski J,
|
||
Demarest OM,
|
||
Rothberg PG,
|
||
Hobert JA;
|
||
ACMG Therapeutics Committee. Electronic address: documents@acmg.net</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Sep;25(9):100358.
|
||
Epub 2023 Jul 20
|
||
doi: 10.1016/j.gim.2022.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37470789" target="_blank">37470789</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33822819">BH4-deficient hyperphenylalaninemia in Russia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gundorova P,
|
||
Kuznetcova IA,
|
||
Baydakova GV,
|
||
Stepanova AA,
|
||
Itkis YS,
|
||
Kakaulina VS,
|
||
Alferova IP,
|
||
Lyazina LV,
|
||
Andreeva LP,
|
||
Kanivets I,
|
||
Zakharova EY,
|
||
Kutsev SI,
|
||
Polyakov AV</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2021;16(4):e0249608.
|
||
Epub 2021 Apr 6
|
||
doi: 10.1371/journal.pone.0249608.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33822819" target="_blank">33822819</a><a href="/pmc/articles/PMC8023510" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32456656">Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opladen T,
|
||
López-Laso E,
|
||
Cortès-Saladelafont E,
|
||
Pearson TS,
|
||
Sivri HS,
|
||
Yildiz Y,
|
||
Assmann B,
|
||
Kurian MA,
|
||
Leuzzi V,
|
||
Heales S,
|
||
Pope S,
|
||
Porta F,
|
||
García-Cazorla A,
|
||
Honzík T,
|
||
Pons R,
|
||
Regal L,
|
||
Goez H,
|
||
Artuch R,
|
||
Hoffmann GF,
|
||
Horvath G,
|
||
Thöny B,
|
||
Scholl-Bürgi S,
|
||
Burlina A,
|
||
Verbeek MM,
|
||
Mastrangelo M,
|
||
Friedman J,
|
||
Wassenberg T,
|
||
Jeltsch K,
|
||
Kulhánek J,
|
||
Kuseyri Hübschmann O;
|
||
International Working Group on Neurotransmitter related Disorders (iNTD)</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 May 26;15(1):126.
|
||
doi: 10.1186/s13023-020-01379-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32456656" target="_blank">32456656</a><a href="/pmc/articles/PMC7251883" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21937252">Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blau N,
|
||
Hennermann JB,
|
||
Langenbeck U,
|
||
Lichter-Konecki U</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2011;104 Suppl:S2-9.
|
||
Epub 2011 Aug 26
|
||
doi: 10.1016/j.ymgme.2011.08.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21937252" target="_blank">21937252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12757360">Autism and phenylketonuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baieli S,
|
||
Pavone L,
|
||
Meli C,
|
||
Fiumara A,
|
||
Coleman M</span><br />
|
||
<span class="medgenPMjournal">J Autism Dev Disord</span>
|
||
2003 Apr;33(2):201-4.
|
||
doi: 10.1023/a:1022999712639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12757360" target="_blank">12757360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphenylalaninemia%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 (212)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32456656">Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opladen T,
|
||
López-Laso E,
|
||
Cortès-Saladelafont E,
|
||
Pearson TS,
|
||
Sivri HS,
|
||
Yildiz Y,
|
||
Assmann B,
|
||
Kurian MA,
|
||
Leuzzi V,
|
||
Heales S,
|
||
Pope S,
|
||
Porta F,
|
||
García-Cazorla A,
|
||
Honzík T,
|
||
Pons R,
|
||
Regal L,
|
||
Goez H,
|
||
Artuch R,
|
||
Hoffmann GF,
|
||
Horvath G,
|
||
Thöny B,
|
||
Scholl-Bürgi S,
|
||
Burlina A,
|
||
Verbeek MM,
|
||
Mastrangelo M,
|
||
Friedman J,
|
||
Wassenberg T,
|
||
Jeltsch K,
|
||
Kulhánek J,
|
||
Kuseyri Hübschmann O;
|
||
International Working Group on Neurotransmitter related Disorders (iNTD)</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 May 26;15(1):126.
|
||
doi: 10.1186/s13023-020-01379-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32456656" target="_blank">32456656</a><a href="/pmc/articles/PMC7251883" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29025426">The complete European guidelines on phenylketonuria: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Wegberg AMJ,
|
||
MacDonald A,
|
||
Ahring K,
|
||
Bélanger-Quintana A,
|
||
Blau N,
|
||
Bosch AM,
|
||
Burlina A,
|
||
Campistol J,
|
||
Feillet F,
|
||
Giżewska M,
|
||
Huijbregts SC,
|
||
Kearney S,
|
||
Leuzzi V,
|
||
Maillot F,
|
||
Muntau AC,
|
||
van Rijn M,
|
||
Trefz F,
|
||
Walter JH,
|
||
van Spronsen FJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 Oct 12;12(1):162.
|
||
doi: 10.1186/s13023-017-0685-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29025426" target="_blank">29025426</a><a href="/pmc/articles/PMC5639803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24882081">Molecular genetics and diagnosis of phenylketonuria: state of the art.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blau N,
|
||
Shen N,
|
||
Carducci C</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Mol Diagn</span>
|
||
2014 Jul;14(6):655-71.
|
||
Epub 2014 May 31
|
||
doi: 10.1586/14737159.2014.923760.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24882081" target="_blank">24882081</a></div>
|
||
|
||
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Anikster Y,
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Belanger-Quintana A,
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Burlina A,
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Burton BK,
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Carducci C,
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Desviat LR,
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Eliyahu A,
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Evers RAF,
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Fajkusova L,
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Feillet F,
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Bonfim-Freitas PE,
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Giżewska M,
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Gundorova P,
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Karall D,
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Kneller K,
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Kutsev SI,
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Leuzzi V,
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Levy HL,
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Lichter-Konecki U,
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Muntau AC,
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Namour F,
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Oltarzewski M,
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Paras A,
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Perez B,
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Polak E,
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Polyakov AV,
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Porta F,
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Rohrbach M,
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Scholl-Bürgi S,
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Spécola N,
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Stojiljković M,
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Shen N,
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Santana-da Silva LC,
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Skouma A,
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van Spronsen F,
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Stoppioni V,
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Thöny B,
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Trefz FK,
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Vockley J,
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Yu Y,
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Zschocke J,
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Hoffmann GF,
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Garbade SF,
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Blau N</span><br />
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2020 Aug 6;107(2):234-250.
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Epub 2020 Jul 14
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<span class="bold">PMID: </span><a href="/pubmed/32668217" target="_blank">32668217</a><a href="/pmc/articles/PMC7413859" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17935162">Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zurflüh MR,
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Zschocke J,
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Lindner M,
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Feillet F,
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Chery C,
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Burlina A,
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Stevens RC,
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Thöny B,
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Blau N</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
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2008 Jan;29(1):167-75.
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<span class="bold">PMID: </span><a href="/pubmed/17935162" target="_blank">17935162</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cynober L</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphenylalaninemia%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 (241)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37470789">Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams AD,
|
||
Fiesco-Roa MÓ,
|
||
Wong L,
|
||
Jenkins GP,
|
||
Malinowski J,
|
||
Demarest OM,
|
||
Rothberg PG,
|
||
Hobert JA;
|
||
ACMG Therapeutics Committee. Electronic address: documents@acmg.net</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Sep;25(9):100358.
|
||
Epub 2023 Jul 20
|
||
doi: 10.1016/j.gim.2022.12.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37470789" target="_blank">37470789</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36594744">Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paermentier L,
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Cano A,
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Chabrol B,
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<span class="bold">PMID: </span><a href="/pubmed/36594744" target="_blank">36594744</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34908184">Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Weissbach A,
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Pauly MG,
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Herzog R,
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Hahn L,
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Halmans S,
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Hamami F,
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Bolte C,
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Camargos S,
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Jeon B,
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Kurian MA,
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Opladen T,
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Brüggemann N,
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Huppertz HJ,
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König IR,
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<span class="bold">PMID: </span><a href="/pubmed/34908184" target="_blank">34908184</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32703178">Phenylketonuria screening in Iranian newborns: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shokri M,
|
||
Karimi P,
|
||
Zamanifar H,
|
||
Kazemi F,
|
||
Badfar G,
|
||
Azami M</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2020 Jul 24;20(1):352.
|
||
doi: 10.1186/s12887-020-02230-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703178" target="_blank">32703178</a><a href="/pmc/articles/PMC7379797" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32698408">Bone Status in Patients with Phenylketonuria: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Castro MJ,
|
||
de Lamas C,
|
||
Sánchez-Pintos P,
|
||
González-Lamuño D,
|
||
Couce ML</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2020 Jul 20;12(7)
|
||
doi: 10.3390/nu12072154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32698408" target="_blank">32698408</a><a href="/pmc/articles/PMC7400926" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperphenylalaninemia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div></div>
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<li><a href="/gtr/tests?term=C0751435%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
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<li><a href="/gtr/tests?term=C0751435%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
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