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单词 Hurler disease
释义

Hurler disease

英语百科

Hurler syndrome

(重定向自Hurler disease)
Hurler syndrome has an autosomal recessive pattern of inheritance.

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

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更新时间:2025/6/17 11:27:15