Last update 01 Nov 2024

Niemann-Pick Disease, Type A

Basic Info

Synonyms
ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE, ASMD, NEUROVISCERAL TYPE, A型Niemann-Pick病
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Introduction
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.

Analysis

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