Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
A family exhibiting a leukocytic arylsulfatase A deficiency, probably inherited in an autosomal recessive manner, differed from patients with typical metachromatic leukodystrophy in that sulfatiduria was absent and there was readily detectable cerebroside sulfatase activity. To our knowledge, this family was unique in that there were no known members with metachromatic leukodystrophy and the only neurologic abnormality was progressive retinal pigment degeneration in the proband.
D000293:Adolescent; D000328:Adult; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D003677:Deficiency Diseases / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000473:pathology; D009898:Optic Disk / Q000473:pathology; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D011247:Pregnancy; D012162:Retinal Degeneration / Q000150:complications*; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases; D002553:Cerebroside-Sulfatase