A variant form of metachromatic leukodystrophy without arylsulfatase deficiency

Ann Neurol. 1982 Jul;12(1):33-6. doi: 10.1002/ana.410120106.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Axons / ultrastructure
  • Biopsy
  • Cerebroside-Sulfatase / deficiency*
  • Cerebroside-Sulfatase / urine
  • Electromyography
  • Female
  • Fibroblasts / enzymology
  • Genetic Variation*
  • Genotype
  • Humans
  • Isoenzymes / metabolism
  • Leukodystrophy, Metachromatic / diagnosis*
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / genetics
  • Nerve Fibers, Myelinated / ultrastructure
  • Neural Conduction
  • Sulfatases / deficiency*
  • Sural Nerve / pathology


  • Isoenzymes
  • Sulfatases
  • Cerebroside-Sulfatase