Enzyme or protein defect
Galactocerebrosidase
Accumulates or becomes deficient
Galactocerebroside, psychosine
Key features
Optic atrophy, peripheral neuropathy, globoid cells, developmental regression
Management
HSCT if presymptomatic
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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