This disease is caused by a deficiency of an enzyme called sphingomyelinase, an enzyme responsible for breaking down a specific fat in the body. Lack of sphingomyelinase causes an accumulation of this fat in various body organs. There are several subtypes of this condition. Type A is seen with increased frequency in those of Jewish ancestry. In type A, accumulation also occurs in the brain and nervous system which causes rapid deterioration and death 2-3 years of age. No cure or effective treatment is available.
|Disease frequency:||1 in 40,000 for type A in the Jewish population.|
|Carrier frequency:||As high as 1 in 70 for those of Jewish ancestry.|
|Diagnosis:||Laboratory testing looking for deficiency of a specific enzyme or by genetic testing of the Niemann-Pick gene.|
|Carrier testing:||Available by testing of the Niemann-Pick gene.|
|Prenatal diagnosis:||Available to those with an affected child or to couples identified to be at risk by carrier testing.|