A to Z: Mucopolysaccharidosis Type IIenparentshttps://kidshealth.org/EN/images/headers/P-khAZDictionary-enHD-AR1.jpgMucopolysaccharidosis type II, or Hunter syndrome, is a rare genetic disorder that affects mostly males.mucopolysaccharidosis, mucopolysaccharidosis type II, Hunter syndrome, iduronate sulfatase deficiency, lysosomal storage diseases, iduronate-2-sulfatase enzyme, mucopolysaccharides, coarse facial features, thickening of the tongue, idursulfase, Elaprase09/06/201301/30/202001/30/2020e29db432-eac1-487f-8a93-6d0adeb1b306https://kidshealth.org/ws/RadyChildrens/en/parents/az-mucopolysaccharidosis.html/<p><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/dictionary/"><img class="right" title="Parents image" src="https://kidshealth.org/EN/images/buttons/P-atoZDictionary-enBT.jpg" alt="A to Z Dictionary 500 Go" name="5093-P_ATOZDICTIONARY2_ENBT.JPG" /></a></p> <p>Mucopolysaccharidosis type II, or Hunter syndrome, is a rare <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/">genetic</a> disorder. Most cases are in males.</p> <p>It happens when the enzyme needed to break down complex sugars is missing or not working as it should. Enzymes are proteins that speed up chemical activity in the cells.</p> <h3>More to Know</h3> <p>With Hunter syndrome, chains of sugar molecules (called mucopolysaccharides) can't be broken down. They build up in the body, which harms cells and tissues.</p> <p>Hunter syndrome, which isn't present at birth, can be either severe or mild. The severe form begins just after age 2. Symptoms of the mild form don't start until later.</p> <p>Most people with Hunter syndrome will have:</p> <ul> <li>a larger than normal head</li> <li>facial features that include a broad nose; flared nostrils; and thickening of the lips, tongue, and nostrils</li> <li>deafness that gets worse over time</li> <li>joint stiffness</li> <li>carpal tunnel syndrome, which causes numbness, weakness, and tingling in the hand</li> </ul> <p>The juvenile (severe) form of Hunter syndrome includes aggressive behavior, hyperactivity, intellectual delay, and stiff or rigid <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/bones-muscles-joints.html/">muscles</a>.</p> <p>Other signs and symptoms include heart problems, vision disturbances, an enlarged <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/spleen-lymphatic.html/">spleen</a> or liver, <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/hernia.html/">hernias</a>, and breathing problems.</p> <h3>Keep in Mind</h3> <p>There is no cure for Hunter syndrome, but the drug idursulfase (Elaprase) can help ease symptoms. <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/stem-cells.html/">Bone marrow transplants</a> can slow the progression of the disease in some who have it.</p> <p>People with a family history of Hunter syndrome who are thinking about having children should see a <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/genetic-counseling.html/">genetic counselor</a>.</p> <p><em>All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.</em></p>
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kh:age-allAgesOrAgeAgnostickh:clinicalDesignation-geneticskh:genre-dictionarykh:primaryClinicalDesignation-geneticsMhttps://kidshealth.org/ws/RadyChildrens/en/parents/dictionary/m/2aba21ee-5cd5-4788-a60d-af36b997b6c6https://kidshealth.org/EN/images/buttons/P-atoZDictionary-enBT.jpg