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Niemann-Pick disease
(redirected from Niemann Pick disease)

   Also found in: Medical, Encyclopedia, Wikipedia 0.03 sec.
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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


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Toni, 39, who is the Executive Director of Niemann Pick Disease UK, said: "Although each disease will affect only a few families there are between 6,000 to 8,000 rare diseases, so the total number is very significant.
 
 
 
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