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Leukodystrophy, Metachromatic

More information in Books or onNLM PubMed
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.     
See Also Cerebroside-Sulfatase 		Other names Cerebroside Sulphatase Deficiency Disease; Arylsulfatase A Deficiency Disease; Sulfatase Deficiency, Cerebroside; Sulfatase Deficiencies, Cerebroside; Metachromatic Leukoencephalopathies; Metachromatic Leukodystrophy, Juvenile Type; Metachromatic Leukodystrophy, Infant Type; Metachromatic Leukodystrophy, Adult Type; Metachromatic Leukodystrophy; Metachromatic Leukodystrophies, Juvenile-Type; Metachromatic Leukodystrophies, Infant-Type; Metachromatic Leukodystrophies, Infant; Metachromatic Leukodystrophies, Adult-Type; Metachromatic Leukodystrophies; Lipidosis, Sulfatide; Leukoencephalopathy, Metachromatic; Leukoencephalopathies, Metachromatic; Leukodystrophy, Juvenile-Type Metachromatic; Leukodystrophy, Adult-Type Metachromatic; Leukodystrophies, Metachromatic
 
SubstanceCAS Registry & nameCategoriesSource
ARSA deficiency  0   *Leukodystrophy, Metachromatic.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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