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<span>Hereditary fructose intolerance</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/hereditary-fructose-intolerance/</span>
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<h1>Hereditary fructose intolerance</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
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<h2>Description</h2>
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<section><div class="mp-content"><p>Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive).</p><p>Repeated ingestion of fructose-containing foods can lead to liver and <a class="image-modal" data-alt="Drawing shows the right and left kidneys. There are two kidneys, one on each side of the backbone, above the waist. The kidneys remove waste and extra water from the blood and make urine. They also help keep chemicals balanced in the body, make hormones that control blood pressure, and stimulate bone marrow to make red blood cells." data-caption="Drawing shows the right and left kidneys. There are two kidneys, one on each side of the backbone, above the waist. The kidneys remove waste and extra water from the blood and make urine. They also help keep chemicals balanced in the body, make hormones that control blood pressure, and stimulate bone marrow to make red blood cells." data-credit="© 2019 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0003MO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0003MO" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=12172" data-title="Kidney anatomy" href="https://medlineplus.gov/images/PX0003MO_PRESENTATION.jpeg" id="PX0003MO_1" title="Show image">kidney<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> damage. The liver damage can result in a yellowing of the skin and whites of the eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease (cirrhosis). Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. Due to the severity of symptoms experienced when fructose is ingested, most people with hereditary fructose intolerance develop a dislike for fruits, juices, and other foods containing fructose.</p><p>Hereditary fructose intolerance should not be confused with a condition called fructose malabsorption. In people with fructose malabsorption, the cells of the intestine cannot absorb fructose normally, leading to bloating, diarrhea or constipation, flatulence, and stomach pain. Fructose malabsorption is thought to affect approximately 40 percent of individuals in the Western hemisphere; its cause is unknown.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>The incidence of hereditary fructose intolerance is estimated to be 1 in 20,000 to 30,000 individuals each year worldwide.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Mutations in the <i><a data-pid="18721" href="https://medlineplus.gov/genetics/gene/aldob/">ALDOB</a></i> gene cause hereditary fructose intolerance. The <i>ALDOB</i> gene provides instructions for making the aldolase B enzyme. This enzyme is found primarily in <a class="image-modal" data-alt="The liver is in the upper abdomen near the stomach, intestines, gallbladder, and pancreas." data-caption="The liver is in the upper abdomen near the stomach, intestines, gallbladder, and pancreas. The liver has four lobes. Two lobes are on the front and two small lobes (not shown) are on the back of the liver." data-credit="© 2009 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001V1_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001V1" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9077" data-title="Liver" href="https://medlineplus.gov/images/PX0001V1_PRESENTATION.jpeg" id="PX0001V1_2" title="Show image">the liver<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and is involved in the breakdown (metabolism) of fructose so this sugar can be used as energy. Aldolase B is responsible for the second step in the metabolism of fructose, which breaks down the molecule fructose-1-phosphate into other molecules called glyceraldehyde and dihydroxyacetone phosphate.</p><p><i>ALDOB</i> gene mutations reduce the function of the enzyme, impairing its ability to metabolize fructose. A lack of functional aldolase B results in an accumulation of fructose-1-phosphate in liver cells. This buildup is toxic, resulting in the death of liver cells over time. Additionally, the breakdown products of fructose-1-phosphase are needed in the body to produce energy and to maintain blood sugar levels. The combination of decreased cellular energy, low blood sugar, and liver cell death leads to the features of hereditary fructose intolerance.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with Hereditary fructose intolerance</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/aldob/">ALDOB</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Condition</h2>
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<section>
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<ul class="bulletlist">
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<li>ALDOB deficiency</li> <li>Aldolase B deficiency</li> <li>Fructose aldolase B deficiency</li> <li>Fructose intolerance</li> <li>Fructose-1,6-biphosphate aldolase deficiency</li> <li>Fructose-1-phosphate aldolase deficiency</li> <li>Fructosemia</li>
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||
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|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0016751/" target="TheNewWin">Genetic Testing Registry: Hereditary fructosuria</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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<section>
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<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/6622/index" target="TheNewWin">Hereditary fructose intolerance</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
|
||
</ul>
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||
</section>
|
||
|
||
<section>
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||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22Hereditary fructose intolerance%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
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||
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||
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|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/229600" target="TheNewWin">FRUCTOSE INTOLERANCE, HEREDITARY; HFI</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Fructose+Intolerance%5BMAJR%5D%29+AND+%28hereditary+fructose+intolerance%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
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|
||
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||
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|
||
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|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Bouteldja N, Timson DJ. The biochemical basis of hereditary fructose
|
||
intolerance. J Inherit Metab Dis. 2010 Apr;33(2):105-12. doi:
|
||
10.1007/s10545-010-9053-2. Epub 2010 Feb 17. <a href="https://pubmed.ncbi.nlm.nih.gov/20162364" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Coffee EM, Yerkes L, Ewen EP, Zee T, Tolan DR. Increased prevalence of mutant
|
||
null alleles that cause hereditary fructose intolerance in the American
|
||
population. J Inherit Metab Dis. 2010 Feb;33(1):33-42. doi:
|
||
10.1007/s10545-009-9008-7. Epub 2009 Dec 23. <a href="https://pubmed.ncbi.nlm.nih.gov/20033295" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954661/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F.
|
||
Structural and functional analysis of aldolase B mutants related to hereditary
|
||
fructose intolerance. FEBS Lett. 2002 Nov 6;531(2):152-6. doi:
|
||
10.1016/s0014-5793(02)03451-8. <a href="https://pubmed.ncbi.nlm.nih.gov/12417303" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher
|
||
K, Kohlschutter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R. The
|
||
spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary
|
||
fructose intolerance in Central Europe. Hum Mutat. 2005 Jun;25(6):594. doi:
|
||
10.1002/humu.9343. <a href="https://pubmed.ncbi.nlm.nih.gov/15880727" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
</ul>
|
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