Niemann-Pick disease

noun
Nie·​mann-Pick disease | \ ˈnē-ˌmän-ˈpik- How to pronounce Niemann-Pick disease (audio) \

Medical Definition of Niemann-Pick disease

: 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

Note: 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.

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