SOCIAL QUESTIONS|health|illness
- Galar Niemann-Pick de chineál C Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
- ga
- NPC | Niemann-Pick Disease type C
- en
- Definition lipid storage disease that can present in infants, children, or adults Reference Marc Patterson. Niemann-Pick Disease Type C, http://www.ncbi.nlm.nih.gov/books/NBK1296/ [21.5.2013]
- Comment NPC Patients are not able to metabolise cholesterol and other lipids properly within the cell. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. NPC causes a secondary reduction of acid sphingomyelinase (ASM) activity, which led all three types to be considered forms of the same disease. This enzyme is found in special compartments within cells called lysosomes and is required to metabolize a lipid called sphingomyelin. If ASM is absent or not functioning properly, sphingomyelin cannot be metabolised properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems.See also:- Niemann-Pick Disease (broader) [ IATE:1489534 ]
- maladie de Niemann-Pick de type C
- fr
- Definition maladie génétique autosomique récessive avec atteinte neuro-viscérale caractérisée par l'altération du transport des lipides dans les cellules Reference Actelion > Accueil > Professionnels de santé > Maladie Niemann-Pick C, http://www.actelion.fr/fr/professionnels-de-sante/maladie-niemann-pick-c/index.page [13.12.2013]
- Comment Cette altération du transport des lipides entraîne l’accumulation de cholestérol dans le foie et la rate ainsi que l’accumulation de sphingolipides dans les neurones.