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<link rel="alternative" hreflang="en" href="https://medlineplus.gov/ency/article/001201.htm"/><meta property="og:title" content="Hartnup disorder: MedlinePlus Medical Encyclopedia"/><meta property="og:url" content="https://medlineplus.gov/ency/article/001201.htm"/><meta property="twitter:title" content="Hartnup disorder: MedlinePlus Medical Encyclopedia"/><meta name="twitter:card" content="summary_large_image"/><meta name="description" content="Hartnup disorder is a genetic condition in which there is a defect in the transport of certain amino acids (such as tryptophan and histidine) by the small intestine and kidneys."/><meta itemprop="description" name="description" content="Hartnup disorder is a genetic condition in which there is a defect in the transport of certain amino acids (such as tryptophan and histidine) by the small intestine and kidneys."/><meta property="og:description" content="Hartnup disorder is a genetic condition in which there is a defect in the transport of certain amino acids (such as tryptophan and histidine) by the small intestine and kidneys."/><meta property="twitter:description" content="Hartnup disorder is a genetic condition in which there is a defect in the transport of certain amino acids (such as tryptophan and histidine) by the small intestine and kidneys."/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_1.jpg"/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_2.jpg"/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_3.jpg"/><meta property="twitter:image" content="https://medlineplus.gov/images/share_ency_1.jpg"/>
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</div><div><span>Hartnup disorder</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">Hartnup disorder</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Hartnup disorder is a genetic condition in which there is a defect in the transport of certain <a test="test" href="./002222.htm">amino acids</a> (such as <a test="test" href="./002332.htm">tryptophan</a> and histidine) by the small intestine and kidneys.</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>Hartnup disorder is a metabolic condition involving amino acids. It is an inherited condition. This condition occurs due to non-working copies of the <em>SLC6A19</em> gene. A child must inherit a copy of the variant gene from both parents to be seriously affected.</p><p>The condition most often appears between ages 3 to 9 years.</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>Most people show no symptoms. If symptoms do occur, they most often appear in childhood and may include:</p><ul><li>Diarrhea</li><li>Mood changes</li><li>Nervous system (neurologic) problems, such as abnormal muscle tone and uncoordinated movements</li><li>Red, scaly <a test="test" href="./003220.htm">skin rash</a>, usually when skin is exposed to sunlight</li><li>Sensitivity to light (photosensitivity)</li><li><a test="test" href="./003271.htm">Short stature</a></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>The health care provider will order a urine test to check for high levels of neutral amino acids. The levels of other amino acids may be normal.</p><p>Your provider can test for the gene that causes this condition. Biochemical tests may also be ordered.</p></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>Treatments include:</p><ul><li>Avoiding sun exposure by wearing protective clothing and using a sunscreen with a protection factor of 15 or higher</li><li>Eating a high-protein diet</li><li>Taking supplements containing nicotinamide</li><li>Undergoing mental health treatment, such as taking antidepressants or mood stabilizers, if mood swings or other mental health problems occur </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-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>Most people with this disorder can expect to live a normal life with no disability. Rarely, there have been reports of severe nervous system disease and even deaths in families with this disorder.</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-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>In most cases, there are no complications. Complications when they occur may include:</p><ul><li><div>Changes in skin color that are permanent</div></li><li><div>Mental health problems</div></li><li><div>Rash</div></li><li><div>Uncoordinated movements</div></li></ul><p>Nervous system symptoms can most often be reversed. However, in rare cases they can be severe or life threatening.</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>Contact your provider if you have symptoms of this condition, especially if you have a family history of Hartnup disorder. Genetic counseling is recommended if you have a personal or family history of this condition and are planning a pregnancy.</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>Genetic counseling prior to marriage and conception may help prevent some cases. Eating a high-protein diet may prevent amino acid deficiencies that cause symptoms.</p></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>Kliegman RM, St. Geme JW, Blum NJ, et al. Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. <em>Nelson Textbook of Pediatrics</em>. 22nd ed. Philadelphia, PA: Elsevier; 2020:chap 105.</p><p>Pearl PL, DiBacco ML, Gibson KM. Inborn errors of metabolism and the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. <em>Bradley and Daroff's Neurology in Clinical Practice</em>. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 91.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 8/18/2024</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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