Metachromatic leukodystropy is a sphingolipid storage disease caused by mutations in the arylsulfatase A gene. Arylsulfatase A is a lysosomal enzyme involved in the degradation of various sulfated glycolipids. Its major substrate is 3-O-sulfo-galactosylceramide (sulfatide). Arylsulfatase A deficiency leads to sulfatide storage most importantly in oligodendrocytes and Schwann cells of the nervous system. The pathological hallmark of the disease is a progressive demyelination, which results in multiple, finally lethal neurologic symptoms. This chapter summarizes clinical, genetic, diagnostic, and biochemical aspects of this disease.
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Gieselmann, V. (2007). Metachromatic Leukodystrophy. In: Lysosomal Storage Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-70909-3_19
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