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<span>ACAD9 deficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/acad9-deficiency/</span>
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<article>
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<a name="start" id="start"></a>
<h1>ACAD9 deficiency</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.</p><p>Mildly affected individuals with ACAD9 deficiency usually experience nausea and extreme fatigue in response to physical activity (exercise intolerance). People with ACAD9 deficiency who are moderately affected have low muscle tone (hypotonia) and weakness in the muscles used for movement (<a class="image-modal" data-alt="Diagram showing structure of skeletal muscles" data-caption="" data-credit="sciencepics/Shutterstock.com" data-filepath="images/PX00019C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00019C" data-sourceurl="" data-title="Skeletal muscle anatomy" href="https://medlineplus.gov/images/PX00019C_PRESENTATION.jpeg" id="PX00019C_1" title="Show image">skeletal muscles<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Severely affected individuals have brain dysfunction combined with myopathy (encephalomyopathy); these individuals usually also have an enlarged and weakened heart muscle (<a class="image-modal" data-alt="Illustration of heart muscle diseases: myocarditis with inflammation of the heart muscle, hypertrophic cardiomyopathy with thickened heart muscle, and dialted cardiomyiopathy with weakened heart muscle and an enlarged left ventricle." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX00013G_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00013G" data-sourceurl="" data-title="Abnormalities of the heart muscle" href="https://medlineplus.gov/images/PX00013G_PRESENTATION.jpeg" id="PX00013G_2" title="Show image">hypertrophic cardiomyopathy<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), which is typically fatal in infancy or childhood.</p><p>Individuals with ACAD9 deficiency who survive past early childhood often have intellectual disability and may develop seizures. Rare signs and symptoms of ACAD9 deficiency include movement disorders and problems with liver and kidney function.</p><p>Some individuals with ACAD9 deficiency have had improvement in muscle strength and a reduction in lactic acid levels with treatment.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>The prevalence of ACAD9 deficiency is unknown. At least 25 people with this condition have been described in the scientific literature.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>ACAD9 deficiency is caused by mutations in the <i><a data-pid="19825" href="https://medlineplus.gov/genetics/gene/acad9/">ACAD9</a></i> gene. This gene provides instructions for making an enzyme that is critical in helping assemble a group of proteins known as complex I. Complex I is found in <a class="image-modal" data-alt="Mitochondria are structures within the cell cytoplasm." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00004O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00004O" data-sourceurl="" data-title="Mitochondria" href="https://medlineplus.gov/images/PX00004O_PRESENTATION.jpeg" id="PX00004O_2" title="Show image">mitochondria<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which are the energy-producing structures inside cells. Complex I is one of several complexes that carry out a multistep process called <a class="image-modal" data-alt="Illustration of the flow of electrons in the electron transport chain and the conversion of ADP to ATP by oxidative phosphorylation." data-caption="" data-credit="extender_01/Shutterstock.com" data-filepath="images/PX0000UO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000UO" data-sourceurl="" data-title="Oxidative phosphorylation and the electron transport chain" href="https://medlineplus.gov/images/PX0000UO_PRESENTATION.jpeg" id="PX0000UO_3" title="Show image">oxidative phosphorylation<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, through which cells derive much of their energy.</p><p>The ACAD9 enzyme also plays a role in fatty acid oxidation, a multistep process that occurs within mitochondria to break down (metabolize) fats and convert them into energy. The ACAD9 enzyme helps metabolize a certain group of fats called long-chain fatty acids. Fatty acids are a major source of energy for the heart and muscles. During periods without food (fasting), fatty acids are also an important energy source for the liver and other tissues.</p><p>Some <i>ACAD9</i> gene mutations disrupt complex I assembly as well as long-chain fatty acid oxidation, while others affect only complex I assembly. The mutations that affect both of the enzyme's functions tend to be associated with the most severe signs and symptoms of ACAD9 deficiency, such as encephalomyopathy and <a class="image-modal" data-alt="Illustration of heart muscle diseases: myocarditis with inflammation of the heart muscle, hypertrophic cardiomyopathy with thickened heart muscle, and dialted cardiomyiopathy with weakened heart muscle and an enlarged left ventricle." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX00013G_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00013G" data-sourceurl="" data-title="Abnormalities of the heart muscle" href="https://medlineplus.gov/images/PX00013G_PRESENTATION.jpeg" id="PX00013G_4" title="Show image">hypertrophic cardiomyopathy<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Although the exact mechanism is unclear, it is likely that cells that are less able to produce energy die off, particularly cells in the brain, skeletal muscle, and other tissues and organs that require a lot of energy. The loss of cells in these tissues is thought to lead to the signs and symptoms of ACAD9 deficiency.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with ACAD9 deficiency</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/acad9/">ACAD9</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>Acyl-CoA dehydrogenase 9 deficiency</li> <li>Deficiency of acyl-CoA dehydrogenase family member 9</li> <li>Mitochondrial complex I deficiency due to ACAD9 deficiency</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/C4747517/" target="TheNewWin">Genetic Testing Registry: Acyl-CoA dehydrogenase 9 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/3908/index" target="TheNewWin">Isolated complex I 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>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>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/611126" target="TheNewWin">MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20</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%28ACAD9%5BTIAB%5D%29+AND+%28deficiency%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>Aintablian HK, Narayanan V, Belnap N, Ramsey K, Grebe TA. An atypical
presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens
the phenotypic spectrum and alters treatment approach. Mol Genet Metab Rep. 2016
Dec 29;10:38-44. doi: 10.1016/j.ymgmr.2016.12.005. eCollection 2017 Mar. <a href="https://pubmed.ncbi.nlm.nih.gov/28070495" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219625/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A,
Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rotig
A. High incidence and variable clinical outcome of cardiac hypertrophy due to
ACAD9 mutations in childhood. Eur J Hum Genet. 2016 Aug;24(8):1112-6. doi:
10.1038/ejhg.2015.264. Epub 2015 Dec 16. <a href="https://pubmed.ncbi.nlm.nih.gov/26669660" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970679/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S,
Nassogne MC. Evidence of a wide spectrum of cardiac involvement due to ACAD9
mutations: Report on nine patients. Mol Genet Metab. 2016 Jul;118(3):185-189.
doi: 10.1016/j.ymgme.2016.05.005. Epub 2016 May 13. <a href="https://pubmed.ncbi.nlm.nih.gov/27233227" target="TheNewWin">Citation on PubMed</a></li>
<li>Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ,
Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rotig A, de Coo
IF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complex I
deficiency caused by defective ACAD9: new function for an old gene. Brain. 2011
Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273. Epub 2010 Oct 7. <a href="https://pubmed.ncbi.nlm.nih.gov/20929961" target="TheNewWin">Citation on PubMed</a></li>
<li>Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G,
Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T,
Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Exome sequencing
identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet. 2010
Dec;42(12):1131-4. doi: 10.1038/ng.706. Epub 2010 Nov 7. <a href="https://pubmed.ncbi.nlm.nih.gov/21057504" target="TheNewWin">Citation on PubMed</a></li>
<li>Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs
S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den
Heuvel L, Smeitink J, Vogel RO. Acyl-CoA dehydrogenase 9 is required for the
biogenesis of oxidative phosphorylation complex I. Cell Metab. 2010 Sep
8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002. <a href="https://pubmed.ncbi.nlm.nih.gov/20816094" target="TheNewWin">Citation on PubMed</a></li>
<li>Nouws J, Te Brinke H, Nijtmans LG, Houten SM. ACAD9, a complex I assembly
factor with a moonlighting function in fatty acid oxidation deficiencies. Hum Mol
Genet. 2014 Mar 1;23(5):1311-9. doi: 10.1093/hmg/ddt521. Epub 2013 Oct 24. <a href="https://pubmed.ncbi.nlm.nih.gov/24158852" target="TheNewWin">Citation on PubMed</a></li>
<li>Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R,
Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J,
Munnich A, Rotig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J.
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9
both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet. 2015 Jun
1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26. <a href="https://pubmed.ncbi.nlm.nih.gov/25721401" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424958/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A,
Holinski-Feder E, Augustis S. Lifetime exercise intolerance with lactic acidosis
as key manifestation of novel compound heterozygous ACAD9 mutations causing
complex I deficiency. Neuromuscul Disord. 2017 May;27(5):473-476. doi:
10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14. <a href="https://pubmed.ncbi.nlm.nih.gov/28279569" target="TheNewWin">Citation on PubMed</a></li>
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