Leukodystrophy, Metachromatic

**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.

**Tree numbers:** - C10.228.140.163.100.362.550 - C10.228.140.163.100.435.825.850.500 - C10.228.140.695.625.550 - C10.314.400.550 - C16.320.565.189.362.550 - C16.320.565.189.435.825.850.500 - C16.320.565.398.641.803.925.500 - C16.320.565.595.554.825.850.500 - C18.452.132.100.362.550 - C18.452.132.100.435.825.850.500 - C18.452.584.563.641.803.925.500 - C18.452.648.189.362.550 - C18.452.648.189.435.825.850.500 - C18.452.648.398.641.803.925.500 - C18.452.648.595.554.825.850.500

**Synonyms:** - Arylsulfatase A Deficiency Disease - Cerebroside Sulphatase Deficiency Disease - Sulfatide Lipidosis - Metachromatic Leukoencephalopathy - Cerebral sclerosis, Diffuse, Metachromatic Form - Metachromatic Leukodystrophy