Niemann-Pick Disease

Niemann-Pick Disease is a medical hereditary disorder, where a specific enzyme deficiency causes a product of fat sphingomyelin metabolism accumulation. The gene responsible for Niemann-Pick Diseasethis disorder is recessive, which means that children with Niemann-Pick disease have inherited an abnormal gene from both parents.

The disorder has 5 or more forms depending on the enzyme deficiency severity. The enzyme is entirely absent in severe juvenile form. Serious abnormalities of the nervous system progress because the nerve can not use a product of fat metabolism-sphingomyelin to produce myelin, which is necessary for the myelin sheath that is usually surrounding many nerves.

Children with Niemann-Pick disease progress fatty skin growths, enlarged lymph nodes, spleen and liver, and parts of dark pigmintation; he or she can be mentally retarded. This child usually has low numbers of platelets and white blood cells and anemia, making him or her susceptible to easy bruising and infection. Certain forms of the disease may be diagnosed in the fetus by amniocentesis and villus sampling. After birth, Niemann-Pick disease may be diagnosed by obtaining liver biopsy.

The disease may not be cured, and the child tends to die of central nervous system progressive dysfunction or infections.

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