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what is niemann-pick disease and what are the disease
symptoms?
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Answer Posted / abhilash
Niemann-pick disease is a rare genetic disorder.
this is caused by a deficiency of enzyme sphingomyelinase
which cleaves ceramide-phosphocholine bond of sphingomyelin.
sphingomyelin accumulates in large amounts in
reticuloendothelial system .
niemann-pick disease cells r found in
bonemarrow,spleen,liver lungs etc.
disease manifests in 2 forms.
early disease is charecterised by
hepatosplenomegaly,macular degeneration,cherry red retinal
spot mental retardation and blindness.
late or adult stage intellectual impairment during late
infancy, no cahanges in ocular fundi death of the patient
occurs by the age of 5.
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