Chapter 4 - Endocrine, nutritional and metabolic diseases (E00-E89)»Metabolic disorders (E70-E88)»Niemann-Pick disease type A (E75.240)
E75.240
Niemann-Pick disease type A
Related indications (MeSH) (1)
Niemann-Pick Disease, Type A1 drug (1 approved)
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.