a defect in this enzyme results in accumulation of 3-o-sulfogalactosylceramide in urine, neural and non neural tisues like kidney and gallbladder. there are several forms of mld.
Parent Term
Biochemical pathway
Parent Definition
A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
Other Metabolites Mapped to 'Metachromatic Leukodystrophy (MLD)'