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Detection of metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) presents with progressive neurologic changes and leukodystrophy with variable age of onset.
Arylsulfatase A enzyme levels are decreased in individuals with MLD, and excessive amounts of sulfatides are present in urine.
Decreased arylsulfatase A enzyme levels can be seen in unaffected individuals who have a pseudodeficiency of arylsulfatase A.