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<span>3-hydroxy-3-methylglutaryl-CoA lyase deficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/</span>
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<h1>3-hydroxy-3-methylglutaryl-CoA lyase deficiency</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (<a class="image-modal" data-alt="A string of amino acids forming a polypeptide chain." data-caption="Amino acids are a set of 20 different molecules used to build proteins. Proteins consist of one or more chains of amino acids called polypeptides. The sequence of the amino acid chain causes the polypeptide to fold into a shape that is biologically active. The amino acid sequences of proteins are encoded in the genes." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000IS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000IS" data-sourceurl="" data-title="Amino acids" href="https://medlineplus.gov/images/PX0000IS_PRESENTATION.jpeg" id="PX0000IS_1" title="Show image">amino acid<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).</p><p>The signs and symptoms of HMG-CoA lyase deficiency usually appear within the first year of life. The condition causes episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During an episode, blood sugar (glucose) levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If untreated, the disorder can lead to breathing problems, convulsions, coma, and death. Episodes are often triggered by an infection, fasting, strenuous exercise, or other types of stress.</p><p>HMG-CoA lyase deficiency is sometimes mistaken for Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer than 100 individuals worldwide. Most people diagnosed with this disorder have been from Saudi Arabia, Portugal, or Spain.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Mutations in the <i><a data-pid="17489" href="https://medlineplus.gov/genetics/gene/hmgcl/">HMGCL</a></i> gene cause HMG-CoA lyase deficiency. The <i>HMGCL</i> gene provides instructions for making an enzyme known as 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). This enzyme plays a critical role in breaking down dietary proteins and fats for energy. Specifically, it is responsible for processing leucine, an amino acid that is part of many proteins. HMG-CoA lyase also produces ketones during the breakdown of fats. Ketones are compounds that certain organs and tissues, particularly the brain, use for energy when the simple sugar glucose is not available. For example, ketones are important sources of energy during periods of fasting.</p><p>If a mutation in the <i>HMGCL</i> gene reduces or eliminates the activity of HMG-CoA lyase, the body is unable to process leucine or make ketones properly. When leucine is not processed normally, a buildup of chemical byproducts called organic acids can result in metabolic acidosis. A shortage of ketones often leads to hypoglycemia. Metabolic acidosis and hypoglycemia can damage cells, particularly in the brain, resulting in serious illness in children with HMG-CoA lyase deficiency.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/hmgcl/">HMGCL</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.</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>3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency</li> <li>3-OH 3-CH3 glutaric aciduria</li> <li>3-OH 3-methyl glutaric aciduria</li> <li>3HMG</li> <li>Deficiency of hydroxymethylglutaryl-CoA lyase</li> <li>HMG</li> <li>HMG-CoA lyase deficiency</li> <li>Hydroxymethylglutaric 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/C0268601/" target="TheNewWin">Genetic Testing Registry: Deficiency of hydroxymethylglutaryl-CoA lyase</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/8387/index" target="TheNewWin">3-hydroxy-3-methylglutaric 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=%223-hydroxy-3-methylglutaryl-CoA lyase 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/246450" target="TheNewWin">3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD</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%28hmg-coa+lyase+deficiency%5BTIAB%5D%29+OR+%283-hydroxy-3-methylglutaryl-coa+lyase+deficiency%5BTIAB%5D%29+OR+%28hydroxymethylglutaric+aciduria%5BTIAB%5D%29%29+AND+human%5Bmh%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>Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A.
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with
leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. doi: 10.1002/ana.20280.
<a href="https://pubmed.ncbi.nlm.nih.gov/15505778" target="TheNewWin">Citation on PubMed</a></li>
<li>Casals N, Gomez-Puertas P, Pie J, Mir C, Roca R, Puisac B, Aledo R, Clotet J,
Menao S, Serra D, Asins G, Till J, Elias-Jones AC, Cresto JC, Chamoles NA,
Abdenur JE, Mayatepek E, Besley G, Valencia A, Hegardt FG. Structural
(betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. J
Biol Chem. 2003 Aug 1;278(31):29016-23. doi: 10.1074/jbc.M304276200. Epub 2003
May 13. <a href="https://pubmed.ncbi.nlm.nih.gov/12746442" target="TheNewWin">Citation on PubMed</a></li>
<li>Gibson KM, Breuer J, Nyhan WL. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase
deficiency: review of 18 reported patients. Eur J Pediatr. 1988 Dec;148(3):180-6.
doi: 10.1007/BF00441397. <a href="https://pubmed.ncbi.nlm.nih.gov/3063529" target="TheNewWin">Citation on PubMed</a></li>
<li>Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders
RJ, Wang S, Chevalier I, Plochl E, Miziorko H. HMG CoA lyase deficiency:
identification of five causal point mutations in codons 41 and 42, including a
frequent Saudi Arabian mutation, R41Q. Am J Hum Genet. 1998 Feb;62(2):295-300.
doi: 10.1086/301730. <a href="https://pubmed.ncbi.nlm.nih.gov/9463337" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376904/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Pie J, Casals N, Puisac B, Hegardt FG. Molecular basis of
3-hydroxy-3-methylglutaric aciduria. J Physiol Biochem. 2003 Dec;59(4):311-21.
doi: 10.1007/BF03179889. <a href="https://pubmed.ncbi.nlm.nih.gov/15164951" target="TheNewWin">Citation on PubMed</a></li>
<li>Pie J, Lopez-Vinas E, Puisac B, Menao S, Pie A, Casale C, Ramos FJ, Hegardt
FG, Gomez-Puertas P, Casals N. Molecular genetics of HMG-CoA lyase deficiency.
Mol Genet Metab. 2007 Nov;92(3):198-209. doi: 10.1016/j.ymgme.2007.06.020. Epub
2007 Aug 9. <a href="https://pubmed.ncbi.nlm.nih.gov/17692550" target="TheNewWin">Citation on PubMed</a></li>
<li>Yalcinkaya C, Dincer A, Gunduz E, Ficicioglu C, Kocer N, Aydin A. MRI and MRS
in HMG-CoA lyase deficiency. Pediatr Neurol. 1999 May;20(5):375-80. doi:
10.1016/s0887-8994(99)00013-2. <a href="https://pubmed.ncbi.nlm.nih.gov/10371384" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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