SMPD1 AR unreviewed
Niemann-Pick disease A/B
Enzyme or protein defect
Acid sphingomyelinase
Accumulates or becomes deficient
Sphingomyelin
Key features
Hepatosplenomegaly, cherry-red macula, neurodegeneration (type A), foam cells
Management
Supportive; olipudase alfa for type B
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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