Lexic.us

Definition of Niemann-pick disease

1. Noun. A disorder of lipid metabolism that is inherited as an autosomal recessive trait.

Definition of Niemann-pick disease

1. Noun. (medicine) Any of a group of fatal inherited metabolic disorders associated with sphingomyelin accumulation in the central nervous system. ¹

¹ Source: wiktionary.com

Medical Definition of Niemann-pick disease

1. A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system. The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups. Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised. (29 Dec 1997)

Lexicographical Neighbors of Niemann-pick Disease

Literary usage of Niemann-pick disease

Below you will find example usage of this term as found in modern and/or classical literature:

1. Genes, Behavior, and the Social Environment: Moving Beyond the Nature by Lyla M. Hernandez, Dan G. Blazer (2006)
"Familial Dysautonomia, Niemann Pick disease and Canavan's syndrome) also occur at higher incidence in individuals with a European Jewish heritage (Kaback, ..."

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