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Niemann-Pick disease
Background
There are a number of types of Niemann-Pick disease all of which are characterised by an accumulation of fats in the liver, spleen and bone marrow. Most types of Niemann-Pick disease involve progressive neurological deterioration.
Niemann-Pick is a group of rare, inherited, metabolic conditions that normally affect children, but can sometimes occur in young adults. These conditions are caused by specific genetic mutations. There are three commonly recognised forms: types A, B and C. Current medical opinion suggests that types A and B may be opposite ends of a spectrum of the same disease. Type C is very different at both a genetic and a biochemical level and has also, in the past, been known by other names including: Nevilles Disease, Sphyngomyelin Lipidosis, DAF Syndrome and Juvenile Dystonic Lipidosis.
