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| niemann-pick disease type a treatment |
Niemann-Pick disease is an genetic abnormality during which we have a lack of a particular enzyme resulting in accumulation of sphingomyelin (fat metabolism) or it comes with an abnormal accumulation of cholesterol.
CAUSE
Gene in charge of Niemann-Pick disease is recessive, someone must have two genes from both dad and mom.
The illness is most typical in Jewish families.
SYMPTOMS
Niemann-Pick disease have five forms or maybe more, with respect to the harshness of the enzyme deficiency or weight accumulation of cholesterol.
Inside the juvenile form is associated with severe enzyme deficiency, a complete absence of the enzyme.
Nerve fibres abnormalities are severe for the reason that nerves are not able to use sphingomyelin to generate myelin (nerve sheath).
Kids with this disease have expansion of fat from the skin, features a dark pigmentation area and still have an enlarged liver, spleen and lymph nodes.
They could also endure mental retardation (subnormality).
These children most often have anemia from the amount of white blood cells and platelets are low, causing them to be vunerable to infection and bruising.
Diagnosis
Some kind of Niemann-Pick disease may be diagnosed in the fetus with chorion villus sampling or amniosintentesis (study of amniotic fluid).
After birth, the diagnosis could be confirmed by liver biopsy.
TREATMENT
Niemann-Pick disease can not be cured, along with the children that are suffering using this disease tend to die of infection or CNS dysfunction progressive.
