title: An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
abstract: A 7-year-old girl who showed retarded psychomotor development and generalized hypotonia without any signs of progression is described. Marked deficiency of arylsulfatase A activity in leukocytes and fibroblasts was observed. Both parents showed activity in cultured fibroblasts within the heterozygote-normal range. Cerebroside-sulfatase activity was absent in cultured fibroblasts from the patient. Urinary analyses revealed a pathologically increased sulfatide excretion. Normal sensory nerve conduction velocity was found, but no metachromatic material was found in a sural nerve biopsy. Loading of the patient's fibroblasts with sulfatides resulted in normal uptake and normal degradation.
mesh_terms: D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D002648:Child; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D009123:Muscle Hypotonia / Q000201:enzymology; D011596:Psychomotor Disorders / Q000201:enzymology; D013429:Sulfatases / Q000172:deficiency*; D013433:Sulfoglycosphingolipids / Q000378:metabolism / Q000652:urine*
chemical_list: D013433:Sulfoglycosphingolipids; D013429:Sulfatases; D002553:Cerebroside-Sulfatase