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Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare inherited lysosomal storage disease in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
MPS II, Hunter syndrome or iduronate sulfatase deficiency, is caused by lack of the enzyme iduronate sulfatase. Hunter syndrome has two clinical subtypes and (since it shows X-linked recessive inheritance) is the only one of the mucopolysaccharidoses in which the mother alone can pass the defective gene to a son.
MPS I H, or Hurler syndrome, is the most severe of the MPS I subtypes. The other two types are MPS I S (Scheie syndrome) and MPS I H-S (Hurler–Scheie syndrome). [citation needed] Because of the substantial overlap between Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, some sources consider these terms to be outdated.
About Hunter Syndrome (MPS II) Hunter syndrome (MPS II) is a rare genetic disease that affects over 2,000 individuals in commercially accessible geographies, primarily males, and leads to physical, cognitive, and behavioral symptoms. Hunter syndrome is caused by mutations in the iduronate-2-sulfatase (IDS) gene, which leads to a deficiency of ...
Regenxbio Inc (NASDAQ: RGNX) has announced a safety update and additional positive interim data from its ongoing Phase 1/2 trial of RGX-121 to treat patients up to 5 years old diagnosed with ...
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Iduronate 2-sulfatase (EC 3.1.6.13; systematic name L -iduronate-2-sulfate 2-sulfohydrolase) is a sulfatase enzyme associated with Hunter syndrome. It catalyses hydrolysis of the 2-sulfate groups of the L -iduronate 2-sulfate units of ...
The 33-year-old Brutalist star revealed on Friday’s episode of The Drew Barrymore Show that he and his older brother Thomas got seriously scolded by police officers as children after they ...
Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes.