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<span>Fumarase deficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/fumarase-deficiency/</span>
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<h1>Fumarase deficiency</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (<a class="image-modal" data-alt="Side view photo of a man showing a small cranium and a sloping forehead" data-caption="Decreased size of the cranium is accompanied by marked posterior sloping of the forehead." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001G1_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001G1" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8ae2118220c1308f" data-title="Microcephaly" href="https://medlineplus.gov/images/PX0001G1_PRESENTATION.jpeg" id="PX0001G1_1" title="Show image">microcephaly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (<a class="image-modal" data-alt="front view photo of forehead showing frontal bossing" data-caption="There is bilateral bulging of the lateral aspects of the forehead with relative sparing of the midline." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001JH_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001JH" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=a223995bdef3e8d6" data-title="Frontal bossing" href="https://medlineplus.gov/images/PX0001JH_PRESENTATION.jpeg" id="PX0001JH_2" title="Show image">frontal bossing<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), low-set ears, a small jaw (<a class="image-modal" data-alt="Photograph of the face of a person with micrognathia." data-caption="There is shortening and narrowing of the mandible and chin." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001LU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001LU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8bbf61b4ad7ca2ef" data-title="Micrognathia" href="https://medlineplus.gov/images/PX0001LU_PRESENTATION.jpeg" id="PX0001LU_3" title="Show image">micrognathia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), widely spaced eyes (<a class="image-modal" data-alt="Photograph of the face of a child with widely spaced eyes." data-caption="A boy with widely spaced eyes." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001SG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001SG" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=71d9f1be67c7f8b6" data-title="Widely spaced eyes (hypertelorism)" href="https://medlineplus.gov/images/PX0001SG_PRESENTATION.jpeg" id="PX0001SG_4" title="Show image">ocular hypertelorism<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), and <a class="image-modal" data-alt="Photographs of two children's faces showing depressed nasal bridge from the front and side views." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00020R_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00020R" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=000fb29123c16757" data-title="Depressed nasal bridge" href="https://medlineplus.gov/images/PX00020R_PRESENTATION.jpeg" id="PX00020R_5" title="Show image">a depressed nasal bridge<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Fumarase deficiency is caused by mutations in the <i><a data-pid="17911" href="https://medlineplus.gov/genetics/gene/fh/">FH</a></i> gene. This gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate.</p><p>Mutations in the <i>FH</i> gene disrupt the enzyme's ability to help convert fumarate to malate, interfering with the function of this reaction in the citric acid cycle. Impairment of the process that generates energy for cells is particularly harmful to cells in the developing brain, and this impairment results in the signs and symptoms of fumarase deficiency.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Fumarase deficiency</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/fh/">FH</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<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. However, people with one mutated copy of the <i><a data-pid="17911" href="https://medlineplus.gov/genetics/gene/fh/">FH</a></i> gene in each cell, including parents of individuals with fumarase deficiency, tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, <a class="image-modal" data-alt="The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus has a muscular outer layer called the myometrium and an inner lining called the endometrium." data-caption="Anatomy of the female reproductive system. The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus has a muscular outer layer called the myometrium and an inner lining called the endometrium." data-credit="© 2009 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001TX_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001TX" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=8262" data-title="Female reproductive system" href="https://medlineplus.gov/images/PX0001TX_PRESENTATION.jpeg" id="PX0001TX_3" title="Show image">the uterus<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. They also have an increased risk of <a class="image-modal" data-alt="Stage II kidney cancer; drawing shows cancer in the left kidney and the tumor is larger than 7 centimeters. An inset shows 7 centimeters is about the size of a peach. Also shown are the fatty tissue and right kidney." data-caption="Stage II kidney cancer. The tumor is larger than 7 centimeters and is found in the kidney only." data-credit="© 2018 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0003NO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0003NO" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=11903" data-title="Kidney cancer stage II" href="https://medlineplus.gov/images/PX0003NO_PRESENTATION.jpeg" id="PX0003NO_4" title="Show image">kidney cancer<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. This condition is called <a data-pid="14977" href="https://medlineplus.gov/genetics/condition/hereditary-leiomyomatosis-and-renal-cell-cancer/">hereditary leiomyomatosis and renal cell cancer</a> (HLRCC).</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Fumarate hydratase deficiency</li> <li>Fumaric aciduria</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0342770/" target="TheNewWin">Genetic Testing Registry: Fumarase deficiency</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>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/6476/index" target="TheNewWin">Fumaric aciduria</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>
</div>
</section>
<section>
<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=%22Fumarase deficiency%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>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/606812" target="TheNewWin">FUMARASE DEFICIENCY; FMRD</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=%28%28fumarase+deficiency%5BTIAB%5D%29+OR+%28fumaric+aciduria%5BTIAB%5D%29+OR+%28fumarate+hydratase+deficiency%5BTIAB%5D%29%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>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E,
Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ,
Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M,
MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska
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