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</div><div><span>Adrenoleukodystrophy</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">Adrenoleukodystrophy</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Adrenoleukodystrophy (ALD) describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are often passed down (inherited) in families.</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>ALD is usually passed down from parent to child as an <a test="test" href="./002048.htm">X-linked genetic trait</a>. It affects mostly males. Some women who are carriers can have milder forms of the disease. It affects about 1 in 20,000 people from all races.</p><p>Some cases of ALD occur when the gene changes on its own. This is called sporadic and is not inherited.</p><p>The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes. This disrupts normal activity in these parts of the body. </p><p>There are three major categories of disease:</p><ul><li>Childhood cerebral form -- appears in mid-childhood (at ages 4 to 8)</li><li>Adrenomyelopathy -- occurs in men in their 20s or later in life</li><li>Impaired adrenal gland function (called <a test="test" href="./000378.htm">Addison disease</a> or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormones</li></ul></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>Childhood cerebral type symptoms include:</p><ul><li>Changes in muscle tone, especially muscle spasms and uncontrolled movements</li><li><a test="test" href="./001004.htm">Crossed eyes</a></li><li>Handwriting that gets worse</li><li>Difficulty at school</li><li>Difficulty understanding what people are saying</li><li>Hearing loss</li><li><a test="test" href="./003256.htm">Hyperactivity</a></li><li>Worsening nervous system damage, including coma, decreased fine motor control, and paralysis
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</li><li><div><a test="test" href="./003200.htm">Seizures</a></div></li><li><div>Swallowing difficulties</div></li><li><div>Visual impairment or blindness</div></li></ul><p>Adrenomyelopathy symptoms include:</p><ul><li>Difficulty controlling urination</li><li>Possible worsening muscle weakness or leg stiffness</li><li>Problems with thinking speed and visual memory</li></ul><p>Adrenal gland failure (Addison type) symptoms include:</p><ul><li>Coma</li><li>Decreased appetite</li><li>Increased skin color</li><li>Loss of weight and muscle mass (wasting)</li><li>Muscle weakness</li><li>Vomiting</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>In most states, children will be screened for ALD as part of newborn screening tests. This is done with a heel stick to draw blood (as part of the routine screenings done on newborns). Newborn screening does not diagnose the condition, but it can help lead to early testing and diagnosis.</p><p>Tests for this condition include:</p><ul><li>Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland</li><li><a test="test" href="./002327.htm">Chromosome</a> study to look for changes in the ABCD1 gene that may make the person more likely to develop a disease</li><li><a test="test" href="./003791.htm">MRI of the head</a></li><li><a test="test" href="./003840.htm">Skin biopsy</a></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>Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.</p><p>A specific treatment for X-linked ALD is not available. A bone marrow transplant may stop worsening of the condition.</p><p>Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life.</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 ALD 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/adrenoleukodystrophy/">rarediseases.org/rare-diseases/adrenoleukodystrophy/</a></li><li>NIH Genetic and Rare Diseases Information Center -- <a class="extln" target="_blank" href="https://rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy">rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy</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>The childhood form of X-linked ALD is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop. The child can live in this condition for as long as 10 years until death occurs.</p><p>The other forms of this disease are milder.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</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> These complications can occur:</p><ul><li>Adrenal crisis</li><li>Vegetative state</li></ul></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-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>Contact your health care provider if:</p><ul><li>Your child develops symptoms of X-linked ALD</li><li>Your child has X-linked ALD and is getting worse</li></ul></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-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-9"><p><a test="test" href="../patientinstructions/000510.htm">Genetic counseling</a> is recommended for couples with a family history of X-linked ALD. Mothers of affected sons have an 85% chance of being a carrier for this condition.</p><p>Prenatal diagnosis of X-linked ALD is also available. It is done by testing cells from <a test="test" href="./003406.htm">chorionic villus sampling</a> or <a test="test" href="./003921.htm">amniocentesis</a>. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.</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>X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex</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/8720t.jpg" alt="Adrenal glands" title="Adrenal glands" class="side-img"/><a href="../imagepages/8720.htm">Adrenal glands</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>James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Errors in metabolism. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. <em>Andrews' Diseases of the Skin: Clinical Dermatology</em>. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 26.</p><p>Lissauer T, Carroll W. Neurological disorders. In: Lissauer T, Carroll W, eds. <em>Illustrated Textbook of Paediatrics</em>. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 29.</p><p>Wangler MF. Defects in metabolism of lipids./Disorders of very-long-chain fatty acids and other peroxisomal functions. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. <em>Nelson Textbook of Pediatrics</em>. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 106.2.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 12/31/2023</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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<div id="section-version" class="section-body"><p>Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. </p>
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