title: Low arylsulphatase A activity in a family without metachromatic leukodystrophy.
abstract: A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase  commensurate with heterozygosity for the classical metachromatic leukodystrophy gene, the father had a variant gene giving an unusually low in vitro level of this enzyme. In combination (the proband), these two genes gave rise to a very low in vitro activity without any apparent disease. In screening for metachromatic leukodystrophy, a low arylsulphatase A level is not necessarily indicative of this disease, if a clinically normal parent shows an unusually low level of this enzyme.
mesh_terms: D001192:Arylsulfatases / Q000378:metabolism*; D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology* / Q000235:genetics; D010375:Pedigree; D011596:Psychomotor Disorders / Q000201:enzymology; D013429:Sulfatases / Q000378:metabolism*
chemical_list: D013429:Sulfatases; D001192:Arylsulfatases