The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency.
Genes:
ARSA
Disorders:
Intellectual Disability, Leukodystrophy
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members
