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Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues.
What is Hunter syndrome? Hunter syndrome (also called mucopolysaccharidosis, type 2 or MPS II) is a genetic condition in which the body creates too little iduronate 2-sulfatase enzyme (an enzyme that helps the body break down certain types of sugar). Hunter syndrome typically affects biological males (people assigned male at birth).
Aug 14, 2022 · 6 min read. What Is Hunter Syndrome (MPS II)? Hunter syndrome, also called mucopolysaccharidosis II or MPS II, is a rare disease that's passed on in families. It mainly affects boys. Their...
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare inherited lysosomal storage disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules called glycosaminoglycans (GAGs).
MPS II is a mucopolysaccharide disease known as Hunter syndrome. It takes its name from Charles Hunter, the professor of medicine in Manitoba, Canada, who first described two brothers with the disease in 1917. MPS II has a wide range of symptoms that vary in severity and can be managed and treated with enzyme replacement therapies.
Hunter syndrome primarily occurs in boys and is one of about 50 diseases classified as lysosomal storage disorders (LSD). In these disorders, genetic variations disrupt the normal activity of lysosomes in human cells. What are lysosomes and what do they do?
Jul 25, 2023 · Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive disorder. It has an early age of onset with clinical symptoms involving multiple organ systems. The severity of the disease depends on the phenotype. The severe phenotype has high morbidity and mortality.
