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drbilalzafaralmost 4 years ago
Hurler Syndrome

Hurler Syndrome

Hurler syndrome, also known as mucopolysaccharidosis type IH (MPS IH), Hurler's disease and formerly gargoylism, is a genetic disorderthat results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs in lysosomes. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death can occur due to organ damage.

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