A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
The clinical, pathological, and biochemical findings in a young woman with a new variant of metachromatic leukodystrophy (MLD) are reported. The patient showed slow early development and deteriorated further during her first two decades. Nerve conductions were slow, and a sural nerve biopsy showed features of a sulfatide lipidosis. Urinary sulfatide excretion was comparable to that of patients with classic MLD, yet in vitro activity of arylsulfatase A and B and cerebroside sulfatase activity were normal. Skin fibroblasts cultured in medium supplemented with 3H-labeled sulfatide showed accumulation of labeled sulfatide in large amounts, implying a defect in sulfatide hydrolysis in vivo in spite of intact enzyme activity in vitro.
D000328:Adult; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000652:urine; D004576:Electromyography; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007527:Isoenzymes / Q000378:metabolism; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D009431:Neural Conduction; D013429:Sulfatases / Q000172:deficiency*; D013497:Sural Nerve / Q000473:pathology
D007527:Isoenzymes; D013429:Sulfatases; D002553:Cerebroside-Sulfatase