Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ASA). This results in accumulation of sulfated glycosphingolipids, mainly 3-O-sulfogalactosylceramide (sulfatide), in the nervous system and various other organs. In patients, lipid storage causes a progressive loss of myelin leading to various neurological symptoms. The sulfatide storage in ASA-deficient mice is comparable to humans, but the mice do not mimic the myelin pathology. Therefore, transgenic ASA-deficient (tg/ASA(-/-)) mice were generated overexpressing the sulfatide-synthesizing enzyme galactose-3-O-sulfotransferase.
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