Niemann-Pick disease

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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 ?
5), who found no significant decrease of GCG activity in cell homogenates from patients with Niemann-Pick disease.
Niemann-Pick disease types A and B: acid sphingomyelinase deficiency.
Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases.