Niemann-Pick disease(redirected from Niemann-Pick disease type C)
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An inherited disorder of lipid metabolism characterized by the accumulation of lipids in the spleen and liver and sometimes in the lungs, bone marrow, and brain. It is divided into several types, one of which occurs chiefly in infants of eastern European Jewish descent.
[After Albert Niemann (1880-1921), German pediatrician, and Ludwig Pick (1868-1944), German pathologist.]
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|Noun||1.||Niemann-Pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait|
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body