A genetic disorder of fat metabolism resulting in mental retardation and brings early death.
A rare inherited disease of a group which affect metabolism. Signs in babies include feeding difficulties, a large abdomen within 3 to 6 months, and progressive loss of early motor skills.
A genetic disease in which a mutation in the gene for sphingolipid-degrading enzyme (sphingomyelinase) has occurred. The disease is characterized by CNS degeneration and very early (under 3 years) death.
Niemann-Pick disease (NPD) is a member of the lipidoses disease group. Lipidoses are disorders of lipid (fat) storage that affect several organ systems. Multiple clinical forms of NPD have been identified. Types A, B, C and D are the most prevalent.
Inherited disease of lipid metabolism, in which phospholipids accumulate in the bone marrow, spleen, and lymph nodes. Symptoms, which begin in early childhood, include an enlarged spleen and liver, anemia, and progressive mental and physical deterioration, usually leading to death within a few years. The disease is largely confined to people of Jewish descent.