Last update 19 Sep 2024

Niemann-Pick Diseases

Basic Info

Synonyms
HISTIOCYTOSIS, LIPID, LIPIDOSIS, SPHINGOMYELIN, NIEMANN-PICK DISEASE
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Introduction
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.

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