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</div><div><span>Menkes disease</span></div></div>
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<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
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</a><h1 class="with-also" itemprop="name">Menkes disease</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Menkes disease is a genetic disorder in which the body has a problem absorbing and distributing copper to bodily organs. The disease affects development, both mental and physical.</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>Menkes disease is caused by a defect in the <em>ATP7A</em> gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function.</p><p>Menkes syndrome is usually inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease. This kind of gene inheritance is called <a test="test" href="./002051.htm">X-linked recessive</a>.</p><p>In some people, the disease is not inherited from their parents. Instead, the gene defect occurs at the time the baby is conceived.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Common symptoms of Menkes disease in infants are:</p><ul><li>Brittle, kinky, steely, sparse, or tangled hair</li><li>Pudgy, rosy cheeks, sagging facial skin</li><li>Feeding difficulties</li><li>Irritability</li><li>Decreased muscle tone (hypotonia), floppiness</li><li><a test="test" href="./000038.htm">Low body temperature</a></li><li>Intellectual disability and developmental delay</li><li><a test="test" href="./003200.htm">Seizures</a></li><li>Skeletal changes</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>Once Menkes disease is suspected, tests that may be done include:</p><ul><li><a test="test" href="./003662.htm">Ceruloplasmin blood test</a> (substance that transports copper in the blood)</li><li>Copper <a test="test" href="./003662.htm">blood test</a></li><li>Skin cell culture</li><li>X-ray of the skeleton or x-ray of the skull</li><li>Gene testing to check for defect of the <em>ATP7A</em> gene </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results and depend on whether the <em>ATP7A</em> gene still has some activity.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>More information and support for people with Menkes syndrome and their families can be found at:</p><ul><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/menkes-disease/">rarediseases.org/rare-diseases/menkes-disease/</a></li><li>NIH Genetic and Rare Diseases Information Center -- <a class="extln" target="_blank" href="https://rarediseases.info.nih.gov/diseases/1521/menkes-disease">rarediseases.info.nih.gov/diseases/1521/menkes-disease</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>Most children with this disease die within the first few years of life.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Talk to your provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives (relatives on the mother's side of the family) of a boy with this syndrome could be seen by a geneticist to find out if they are carriers.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease; Copper transport disease; Trichopoliodystrophy; X-linked copper deficiency</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/17229t.jpg" alt="Hypotonia" title="Hypotonia" class="side-img"/><a href="../imagepages/17229.htm">Hypotonia</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah, SS, Tasker RC, Wilson KM, eds. <em>Nelson Textbook of Pediatrics</em>. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617.</p><p>Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. <em>Emery's Elements of Medical Genetics and Genomics</em>. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 4/24/2023</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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