title: Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family.
abstract: A child with a diagnosis of late-infantile metachromatic leukodystrophy (MLD), and a normal father with low arylsulfatase A (ASA) activity in leucocytes and cultured fibroblasts is described. The child had a pathologically increased amount of sulfatides in the urine, whereas no sulfatides could be found in the father's urine. Sulfatide-loading of the child's cultured fibroblasts showed an accumulation of sulfatides, whereas the fibroblasts from the father had a marginally decreased sulfatide turnover. It is thus possible to discriminate between these two forms of low ASA activity in this family, and to ensure a correct diagnosis should the amniotic fluid cells show a low ASA activity in future pregnancies.
mesh_terms: D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008297:Male; D013429:Sulfatases / Q000172:deficiency*; D013433:Sulfoglycosphingolipids / Q000008:administration & dosage / Q000378:metabolism
chemical_list: D013433:Sulfoglycosphingolipids; D013429:Sulfatases; D002553:Cerebroside-Sulfatase