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what is niemann-pick disease and what are the disease
symptoms?
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Answer / 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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Answer / swetha
Niemann-Pick diseases are genetic diseases which are
classified in a subgroup of LSDs called sphingolipidoses or
lipid storage disorders in which harmful quantities of fatty
substances, or lipids, accumulate in the spleen, liver,
lungs, bone marrow, and brain. In the classic infantile type
A variant, a missense mutation causes complete deficiency of
sphingomyelinase.
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