Enzyme or protein defect
alpha-Galactosidase A
Accumulates or becomes deficient
Globotriaosylceramide (Gb3)
Key features
Angiokeratomas, acroparaesthesia, hypohidrosis, renal failure, cardiomyopathy, stroke
Management
Enzyme replacement (agalsidase); migalastat
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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