📋Overview
Niemann-Pick disease is a group of rare inherited lysosomal storage disorders characterized by the accumulation of sphingomyelin and other lipids in various organs. It is classified mainly into types A, B, and C, with types A and B caused by acid sphingomyelinase deficiency and type C caused by impaired intracellular cholesterol trafficking. The term 'Niemann-Pick disease' is a legacy eponym encompassing these related but genetically distinct conditions, now referred to as acid sphingomyelinase deficiency (types A and B) and Niemann-Pick type C disease.
Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.
Medical codes (for reference)
UMLS CUI: C0028064Codes are provided for reference and interoperability. They are not a diagnosis.
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