Metachromatic Leukodystrophy (MLD)

Metachromatic Leukodystrophy, also known as arylsulfatase a deficiency, is related to metachromatic leukodystrophy, late infantile form and metachromatic leukodystrophy, juvenile form, and has symptoms including ataxia, seizures and muscle weakness. An important gene associated with Metachromatic Leukodystrophy is ARSA (Arylsulfatase A), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Cyclophosphamide and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone marrow, and related phenotypes are periventricular leukomalacia and abnormal circulating enzyme concentration or activity