Niemann-Pick disease

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Nie·mann-Pick disease

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.]
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.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
References in periodicals archive ?
A final diagnosis was made based on the confirmatory investigations as 70% (23 cases) being glycogen storage disease, 15% (5 cases) being Gaucher's disease and the other 15% (5 cases) being Niemann-Pick's disease.
Our study revealed that of 33 cases of inborn errors of metabolism, 23 cases (70%) were reported as glycogen storage disorders, 5 (15%) cases as Gaucher's disease and 5 cases (15%) Niemann-Pick's disease.
DIFFERENTIAL DIAGNOSIS: Cranio-metaphysial & cranio diaphysial dysplasia, Gaucher's disease Osteopetrosis, Marfan's, Down syndrome, Thalassemia, Niemann-Pick's disease.