Sunday, 16 February 2014

Niemann-Pick Disease

Niemann–Pick disease

It denotes to a cluster of congenital severe metabolic illnesses that permit sphingomyelin to accumulate in lysosomes, which are organelles in animal cells.

Symptoms
Symptoms are connected to the organs in which sphingomyelin accrues. Expansion of the liver and spleen (hepatosplenomegaly) may reason abridged appetite, stomach swelling, and discomfort.


Diagnosis
To identify types A and B of Niemen-Pick ailment, a doctor will test the bone marrow or blood to measure the quantity of ASM in white blood cells.

Treatment

No exact cure is recognized for type A, but indications are preserved. In adult patients with type B, doctors try to keep cholesterol stages depressed to usual levels.








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