sulfatide lipidosis

met·a·chro·mat·ic leu·ko·dys·tro·phy

[MIM*250100, MIM*249900] a metabolic disorder, with onset usually in the second year of life and death often before age 5 years, with loss of myelin and accumulation of metachromatic lipids (galactosyl sulfatidates) in the white matter of the central and peripheral nervous systems leading to motor symptoms, paralysis, convulsions, and progressive cerebral deterioration. Autosomal recessive inheritance caused by mutation in either the arylsulfatase A gene (ARSA) on 22q or the prosaposin gene (PSAP) on 10q. There is a dominant form occurring in adults [MIM*156310]. Synonym(s): arylsulfatase A deficiency, sulfatide lipidosis

单词	sulfatide lipidosis
释义	sulfatide lipidosis sulfatide lipidosis [′səl·fə‚tīd ‚lip·ə′dō·səs] (medicine) metachromatic leukodystrophy sulfatide lipidosis met·a·chro·mat·ic leu·ko·dys·tro·phy [MIM250100, MIM249900] a metabolic disorder, with onset usually in the second year of life and death often before age 5 years, with loss of myelin and accumulation of metachromatic lipids (galactosyl sulfatidates) in the white matter of the central and peripheral nervous systems leading to motor symptoms, paralysis, convulsions, and progressive cerebral deterioration. Autosomal recessive inheritance caused by mutation in either the arylsulfatase A gene (ARSA) on 22q or the prosaposin gene (PSAP) on 10q. There is a dominant form occurring in adults [MIM*156310]. Synonym(s): arylsulfatase A deficiency, sulfatide lipidosis
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