ARSA AR unreviewed
Metachromatic leukodystrophy
Enzyme or protein defect
Arylsulfatase A
Accumulates or becomes deficient
Cerebroside sulfate
Key features
Central and peripheral demyelination, ataxia, dementia
Management
HSCT / gene therapy in early disease
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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