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Detection of metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is caused by deficient activity of arylsulfatase A (ARSA) enzyme and is characterized by progressive neurologic changes and leukodystrophy with variable age of onset.
Pseudodeficiency of arylsulfatase A (ARSA) enzyme has been recognized with increasing frequency among patients with other apparently unrelated neurologic conditions as well as among the general population.
This test is not suitable for carrier detection.
Additional studies, such as molecular genetic testing of ARSA (ARSAZ / ARSA Gene, Full Gene Analysis), urinary excretion of sulfatides (CTSA / Ceramide Trihexosides and Sulfatides, Urine), and/or histological analysis for metachromatic lipid deposits in nervous system tissue are recommended to confirm a diagnosis.
Colorimetric, Enzyme Assay