Enzyme or protein defect
beta-Hexosaminidase A
Accumulates or becomes deficient
GM2 ganglioside
Key features
Cherry-red macula, hyperacusis/startle, progressive neurodegeneration; NO hepatosplenomegaly
Management
Supportive
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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