Ashkenazi Disorders: Mendelian

Niemann-Pick Disease, Type A

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.
Inheritance:Autosomal Recessive
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.

Technical Information on Niemann-Pick Disease, Type A

Additional Information:
National Niemann-Pick Disease Foundation, Inc.
PO Box 49
415 Madison Ave.
Ft. Atkinson, WI 53538
(877) cure-npc
fax: (920) 563-0931
email: nnpdf@idcnet.com
www.nnpdf.org