Genotype assignments in a family with the pseudo arylsulfatase a deficiency trait without metachromatic leukodystrophy.
Two children in a family with five siblings were investigated because of low levels of fibroblast arylsulfatase A activity. Neither child had metachromatic leukodystrophy (MLD) and they were diagnosed as having benign pseudo arylsulfatase A deficiency trait (PD). Analysis of arylsulfatase A subunit profiles in fibroblasts provided data for genotype assignments for each family member. Father and mother were assigned an n/pd and n/mld phenotype, respectively. The low enzyme siblings were both assigned pd/mld; two of the three normal enzyme siblings were assigned an n/n phenotype and one an n/mld.
D000328:Adult; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D005838:Genotype; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases; D002553:Cerebroside-Sulfatase