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Concept information

Preferred term

Leukodystrophy, Metachromatic  

Type

  • Topical Descriptor

Entry terms

  • Arylsulfatase A Deficiency Disease
  • Cerebral sclerosis, Diffuse, Metachromatic Form
  • Cerebroside Sulphatase Deficiency Disease
  • Leukoencephalopathies, Metachromatic
  • Leukoencephalopathy, Metachromatic
  • Lipidosis, Sulfatide
  • Metachromatic Leukodystrophy
  • Metachromatic Leukoencephalopathies
  • Metachromatic Leukoencephalopathy
  • Sulfatide Lipidosis

Scope note

  • An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.

History note

  • 1974

In other languages

URI

http://www.yso.fi/onto/mesh/D007966

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