Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. It is an autosomal ressesive trait. The clinical designations currently subdivides patients into 4 categories. In the first, called type A, the children rarely live beyond 18 months. The second group, called type B, is simmilar to type A, however the brain is not affected, and the patient will therefore live longer. The fatty material that accumulates in types A and B is called sphingomyelin. This lipid is a major component of the membrane of all cells in the body. The metabolic defect in types A and B is insufficient activity of an enzyme called sphingomyelinase that catalyzes the decompsition of sphingomyelin which arises from normal cell turnover. These two types are found mostly in the ashcenazi jewish population. The diseise NP also includes 2 other variant forms called types C and D. The disorder may appear early in life or its onset may be delayed into the teen years. Both types are characterized by an inability to mobilize cholesterol in the nerve cells in the brain where it accumulates and causes malfunction of these cells. The only difference between these two subtypes is that type D arises in people with a common ancestral background in Nova Scotia. |