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Niemann-Pick disease
(redirected from Niemann-Pick disease type C)

   Also found in: Medical, Encyclopedia, Wikipedia 0.01 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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Byline: HELEN RAE LITTLE Lucy Mathieson died aged four after being diagnosed with Niemann-Pick disease type C when she was just five weeks old.
Niemann-Pick disease type C leads to a build-up of cholesterol and fatty acids in the body's cells and causes progressive decline.
Little Lucy Mathieson, four, died four years after being diagnosed with terminal Niemann-Pick disease type C at just five weeks old.
 
 
 
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