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</div><div><span>Mucopolysaccharidosis type I</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">Mucopolysaccharidosis type I</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Mucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an <a test="test" href="./002353.htm">enzyme</a> needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems.</p><p>The condition belongs to a group of diseases called <a test="test" href="./001246.htm">mucopolysaccharidoses</a> (MPSs). MPS I is the most common.</p><p>There are several other types of MPSs, including:</p><ul><li><a test="test" href="./001203.htm">MPS II</a> (Hunter syndrome)</li><li><a test="test" href="./001210.htm">MPS III</a> (Sanfilippo syndrome)</li><li><a test="test" href="./001206.htm">MPS IV</a> (Morquio syndrome)</li></ul></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>MPS I is inherited, which means that your parents typically pass the disease on to you. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease.</p><p>People with MPS I do not make an enzyme called lysosomal alpha-L-iduronidase. This enzyme helps break down long chains of sugar molecules called glycosaminoglycans. These molecules are found throughout the body, often in mucus and in fluid around the joints.</p><p>Without the enzyme, glycosaminoglycans build up and damage organs, including the heart. Symptoms can range from mild to severe. The mild form is called attenuated MPS I and the severe form is called severe MPS I.</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 of MPS I most often appear from ages 3 to 8 years. Children with severe MPS I develop symptoms earlier than those with the less severe form.</p><p>Some of the symptoms include:</p><ul><li>Abnormal bones in the spine</li><li>Inability to fully open the fingers (<a test="test" href="./003169.htm">claw hand</a>)</li><li><a test="test" href="./003317.htm">Cloudy corneas</a></li><li><a test="test" href="./003044.htm">Deafness</a></li><li>Halted growth</li><li>Heart valve problems</li><li>Joint disease, including stiffness</li><li><a test="test" href="./001523.htm">Intellectual disability</a> that gets worse over time in severe MPS I</li><li>Thick, coarse facial features with <a test="test" href="./003056.htm">low nasal bridge</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>In some states, babies are tested for MPS I as part of the <a test="test" href="./007257.htm">newborn screening tests</a>.</p><p>Other tests that may be done depending on symptoms include:</p><ul><li><a test="test" href="./003868.htm">Electrocardiogram</a> (ECG)</li><li>Genetic testing for changes to the alpha-L-iduronidase (IDUA) gene</li><li>Urine tests for extra mucopolysaccharides</li><li>X-ray of the spine </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>Enzyme replacement therapy may be recommended. The medicine, called laronidase (Aldurazyme), is given through a vein (IV, intravenously). It replaces the missing enzyme. Talk to your child's provider for more information.</p><p><a test="test" href="./003009.htm">Bone marrow transplant</a> has been tried. The treatment has had mixed results.</p><p>Other treatments depend on the organs that are affected.</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 MPS I and their families can be found at:</p><ul><li>National MPS Society -- <a class="extln" target="_blank" href="https://mpssociety.org/">mpssociety.org</a></li><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i/">rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i</a></li><li>NIH Genetic and Rare Diseases Information Center -- <a class="extln" target="_blank" href="https://rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i">rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-i</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>Children with severe MPS I usually do not do well. Their health problems worsen over time, resulting in death by age 10.</p><p>Children with attenuated (milder) MPS I have fewer health problems, with many leading fairly normal lives into adulthood.</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:</p><ul><li>You have a family history of MPS I and are considering having children</li><li>Your child begins to show symptoms of MPS I</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-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>Experts recommend <a test="test" href="../patientinstructions/000510.htm">genetic counseling</a> and testing for couples with a family history of MPS I who are considering having children. Prenatal testing is available.</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>Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; Severe MPS I; Attenuated MPS I; MPS I H; MPS I S; Hurler syndrome; Scheie syndrome; Hurler-Scheie syndrome; MPS 1 H/S; Lysosomal storage disease - mucopolysaccharidosis type I</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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</div></div><div class="section-body" id="section-Ref"><p>Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Cooney KA, eds. <em>Goldman-Cecil Medicine</em>. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 239.</p><p>Spranger JW. Mucopolysaccharidoses. 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 107.</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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