Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder most often caused by mutations in the sulfatide sulfatase or arylsulfatase A (ASA) gene. This results in the storage of sulfatides in the peripheral and central nervous systems as well as in the kidneys. Patients with MLD exhibit a wide range of clinical features presenting from the late infantile period to adulthood. Testing for this disease is...

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