Definition
- An autosomal recessive lysosomal storage disorder that results from defects in acid sphingomyelinase (types A and B) or defects in lysosomal proteins involved in intracellular lipid transport (types C and D).
- Characterized by accumulation of lipids in the spleen, liver, lungs, bone marrow, and brain
- Divided into 4 main types
- Type A
- Onset in infancy
- Characterized by failure to thrive, hepatosplenomegaly, and progressive central nervous system (CNS) disease
- Type B
- Later, more variable onset and progression
- Characterized by hyperlipidemia and progressive pulmonary and liver disease
- Type C (C1 and C2)
- Onset typically in childhood, although infant and adult onsets are possible.
- Characterized by severe liver, pulmonary, and CNS disease
- Type D (term should no longer be used)
- Should be classified as C1
- Known as Nova Scotia variant
- Types E and F have also been reported, but are poorly characterized and can probably be incorporated into the 4 main types.
Niemann-Pick Disease has been found in Harrison's Practice
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