sulfatide lipidosis


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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].

sulfatide lipidosis

[sul′fətīd]
an inherited lipid metabolism disorder of childhood caused by a deficiency of cerebroside sulfatase enzyme. It results in an accumulation of metachromatic lipids in tissues of the central nervous system, kidney, spleen, and other organs, leading to dementia, paralysis, and death by 10 years of age. Also called metachromatic leukodystrophy. See also lipidosis.