Niemann-Pick disease

(redirected from Niemann-Pick disease type C)
Also found in: Dictionary, Thesaurus, Medical.

Niemann-Pick disease

[′nē‚män ′pik di‚zēz]
(medicine)
A hereditary sphingolipidosis due to an enzyme deficiency resulting in abnormal accumulation of sphingomyelin; symptoms include anemia, enlargement of the liver, spleen, and lymph nodes, gastrointestinal disturbances, and various neurologic deficits. Also known as lipid hystiocytosis.
References in periodicals archive ?
Lucy Mathieson, two, was born with Niemann-Pick disease type C, a genetic condition affecting 50 to 60 people in the UK.
The event is being held in aid of two-year-old Lucy Mathieson, from Washington, who was born with the rare terminal Niemann-Pick disease type C.
Lucy was born with a one-in-250 million terminal complaint, Niemann-Pick disease type C, a genetic condition affecting 50-60 people in the UK and 300 in America.