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Medical Dictionary

Niemann–Pick disease

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noun Nie·mann–Pick disease \ˈnē-ˌmän-ˈpik-\

Medical Definition of Niemann–Pick disease

  1. :  a genetic disease that is marked by the accumulation of phospholipids (such as sphingomyelin) in various tissues typically with enlargement of the spleen, liver, and lymph nodes, and in the more severe forms by progressive neurological deterioration and death Niemann-Pick disease is caused by deficient enzymatic breakdown of lipids in the body and is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.



Biographical Note for niemann–pick disease

Niemann, Albert (1880–1921), and Pick, Ludwig (1868–1944), German physicians. Niemann published the first description of a form of xanthomatosis in 1914. In 1926 Pick described the same condition but in much greater detail. Because of their respective contributions the disease is now known as Niemann-Pick disease.


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