Leukodystrophy, Metachromatic D007966

Related MeSH Hierarchy (15)

Description

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.   MeSH

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Phase 3 Indicated Drugs (1)

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Organization Involved with Phase 1 Indications (2)

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