Niemann-Pick disease

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Nie·mann-Pick disease

An inherited disorder of lipid metabolism characterized by the accumulation of lipids in the spleen and liver and sometimes in the lungs, bone marrow, and brain. It is divided into several types, one of which occurs chiefly in infants of eastern European Jewish descent.

[After Albert Niemann (1880-1921), German pediatrician, and Ludwig Pick (1868-1944), German pathologist.]
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.Niemann-Pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
References in periodicals archive ?
Vtesse was launched in 2015 by Cydan and the National Center for Advancing Translations Sciences (NCATS) at the National Institutes of Health (NIH) to advance its orphan drug candidate, VTS-270, for the treatment of Niemann-Pick Disease Type C (NPC).
Conditions associated with hepatosplenomegaly like Gaucher disease, hexosaminidase A deficiency, Sandhoff disease, Niemann-Pick disease type C, Wolman disease, the mucopolysaccharidoses.
The funding reinforces the early-stage drug developer's efforts to develop treatments for Niemann-Pick Disease Type C, or NPC, a rare disorder that effects the way the body processes cholesterol.
Niemann-Pick disease type C leads to a build-up of cholesterol and fatty acids in the body's cells and causes progressive decline.