Mesh term Niemann-Pick Diseases
Browse to parent terms:Histiocytosis, Non-Langerhans-Cell
Sphingolipidoses
Description
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.Browse to child terms:
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type C
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