Niemann–Pick
/ˌniːmənˈpik/Medicine
noun
Attributive, in the genitive, and ( rare ) with of. Designating, relating to, or suffering from any of a group of inherited (autosomal recessive) metabolic disorders characterized by the abnormal accumulation of lipid (especially sphingomyelin) in various tissues of the body (chiefly the brain, liver, and spleen), leading in the most severe form (type A) to retardation of physical and mental growth and death in early childhood.
- Niemann-Pick disease types A and B are caused by a deficiency of the enzyme acid sphingomyelinase. Niemann-Pick type C represents a defect in intracellular cholesterol movement..
Origin
1920s; earliest use found in Journal of the American Medical Association. From the names of Albert Niemann and Ludwig Pick, German physicians, who described the disease in 1914 and 1926 respectively.
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