Skip to main content

Medical Subject Headings (thesaurus)

Search from vocabulary

Concept information

Preferred term

Leukodystrophy, Metachromatic  

Type

  • mesh:Descriptor

Definition

  • 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.

Entry terms

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

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-L25DCMW5-3

Download this concept:

RDF/XML TURTLE JSON-LD Created 1/1/99, last modified 7/1/21