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</div><div><span>Bassen-Kornzweig syndrome</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">Bassen-Kornzweig syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Bassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through their intestines.</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>Bassen-Kornzweig syndrome is caused by changes in the <em>MTTP</em> gene that tells the body to create lipoproteins (molecules of fat combined with <a test="test" href="./002467.htm">protein</a>). These variants make it hard for the body to properly digest fat and essential vitamins.</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>Symptoms include:</p><ul><li>Balance and coordination difficulties</li><li>Curvature of spine</li><li>Decreased vision that gets worse over time</li><li>Developmental delay</li><li>Failure to thrive (grow) in infancy</li><li>Muscle weakness</li><li>Poor muscle coordination that usually develops after age 10</li><li>Protruding abdomen</li><li>Slurred speech</li><li>Stool abnormalities, including fatty stools that appear pale in color, frothy stools, and abnormally foul-smelling stools</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>There may be damage to the retina of the eye (<a test="test" href="./001029.htm">retinitis pigmentosa</a>).</p><p>Tests that may be done to help diagnose this condition include:</p><ul><li><a test="test" href="./003502.htm">Apolipoprotein B</a> blood test</li><li>Blood tests to look for vitamin deficiencies (fat-soluble vitamins A, D, E, and K)</li><li>"Burr-cell" malformation of the red cells (acanthocytosis)</li><li><a test="test" href="./003642.htm">Complete blood count</a> (CBC)</li><li>Cholesterol studies</li><li><a test="test" href="./003929.htm">Electromyography</a></li><li><a test="test" href="./003434.htm">Eye exam</a></li><li><a test="test" href="./003927.htm">Nerve conduction velocity</a></li><li>Stool sample analysis </li></ul><p>Genetic testing may be available for genetic variants in the <em>MTTP</em> gene.</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>Treatment involves large doses of vitamin supplements containing fat-soluble vitamins (<a test="test" href="./002400.htm">vitamin A</a>, <a test="test" href="./002405.htm">vitamin D</a>, <a test="test" href="./002406.htm">vitamin E</a>, and <a test="test" href="./002407.htm">vitamin K</a>).</p><p>Linoleic acid supplements are also recommended.</p><p>People with this condition should talk to a dietitian. Diet changes are needed to prevent stomach problems. This may involve limiting intake of some types of fat.</p><p>Supplements of medium-chain triglycerides are taken under the supervision of a health care provider. They should be used with caution, because they may cause liver damage.</p></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>How well a person does depends on the amount of brain and nervous system problems.</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>Complications may include:</p><ul><li><a test="test" href="./003040.htm">Blindness</a></li><li>Mental deterioration</li><li>Loss of function of peripheral nerves, uncoordinated movement (ataxia)</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-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 your infant or child has symptoms of this disease. Genetic counseling can help families understand the condition and the risks of inheriting it, and learn how to care for the person.</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>High doses of fat-soluble vitamins may slow the progression of some problems, such as retina damage and decreased vision.</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>Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency</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, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of lipids. 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 104.</p><p>Shamir R. Disorders of malabsorption. 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 364.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 9/18/2023</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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