children s health issues
Niemann Pick Disease
Types of Niemann Pick disease
Niemann-Pick disease has several types. In types A and B, the deficiency of a specific enzyme called sphingomyelinase results in the accumulation of sphingomyelin (a product of fat metabolism). In type C, there is a defect in how fats (lipids) are moved around in a cell, resulting in accumulation of cholesterol and other fatty substances. The most severe forms tend to occur in Ashkenazi Jewish people. The milder forms occur in all ethnic groups. Children withtype A(the most severe form) fail to grow normally and have several neurologic problems. These children usually die by age 2 or 3. develop fatty growths in the skin, areas of dark pigmentation, and an enlarged liver, spleen, and lymph nodes. They may be Intellectual Disability . Children withtype Cdevelop symptoms during childhood, with seizures and neurologic deterioration. Type C is always fatal, and most children die before age 20. 