Niemann-Pick disease - Definition

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Niemann-Pick disease, or essential lipoid histiocytosis, is a rare genetic disease caused by the absence of the acid sphingomyelinase enzyme, inducing the enlargement of certain organs due to a build-up of fat. This disease manifests from early childhood, with increased volume observed in affected organs, principally the spleen and liver, digestive disorders, edemas, and anomalies in psychomotor development. Blood sample analysis reveals significantly increased cholesterol and other fat levels. In severe cases, sufferers generally die within the first few years of life.