Niemann-Pick disease


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Related to Niemann-Pick disease: Tay-Sachs disease, Gaucher disease

Nie·mann-Pick disease

 (nē′mən-pĭk′)
n.
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 ?
The grant will fund an interactive learning experience for children affected by Niemann-Pick diseases, through fun and sensory learning and play using the latest technology in multi-purpose computer tablets and learning apps.
As storage cells were observed in the bone marrow aspiration specimen and lysosomal sphingomyelinase activity was low, the patient was diagnosed with Niemann-Pick disease.
Substrates and internal standards were developed for Gaucher, Fabry, Pompe, and Niemann-Pick diseases, and more recently, for MPS-I.
Niemann-Pick disease type C leads to a build-up of cholesterol and fatty acids in the body's cells and causes progressive decline.
Viv Watts, organiser from the Children's Hope Foundation, one of the beneficiaries of the event along with the Sunshine Fund, Just for Kids and the Niemann-Pick Disease Group, said: "We have had thunderstorms and torrential rain all day and have been unable to get the electrics sorted in time for Julian's performance.
This enzyme replacement therapy is being investigated by Genzyme for the treatment of patients with Niemann-Pick disease Type B.
a rare disease company focused on developing drugs for Niemann-Pick Disease Type C (NPC) and other severe diseases with great unmet need, announced today the expansion of its Scientific Advisory Board(SAB) and the filling of a key staff position in patient advocacy.
The general objective of this project is to support accurate and timely diagnosis, treatment, and research for the overlapping but distinct rare genetic diseases, Niemann-Pick disease (NPD) type A, B & C in Europe.
LEAH'S DREAM, ITV1, Tuesday, 9pm: Leah Garfitt is nine and one of only 500 children in the world with Niemann-Pick Disease, which will eventually kill her.
The illness, Niemann-Pick disease, type C, will gradually rob her of the ability to talk and walk - and will shorten her life.
Dietschy cautioned that the findings in no way represent a Niemann-Pick disease cure.