LSDDB

Niemann-Pick disease

The disease is caused by acid sphingomyelinase enzyme (ASMD). ASMD is classified into Niemann-Pick disease (NPD) A and B. NPD A is an early onset neurovisceral form, progressive neurodegeneration and death by 3 years of age. NPD B is a late onset chronic visceral form with broad spectrum severity. The enzyme deficient is called sphingomyelinase encoded by sphingomyelin phosphodiesterase (SMPD1) gene located at 11p15.1-4 (Wasserstein and Schuchman, 1993; McGovern et al., 2017).

Reference :
McGovern, M. M. et al. (2017) ‘Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)’, Orphanet Journal of Rare Diseases, 12(1), p. 41. doi: 10.1186/s13023-017-0572-x.
Wasserstein, M. P. and Schuchman, E. H. (1993) ‘Acid Sphingomyelinase Deficiency’, in Adam, M. P. et al. (eds) GeneReviews®. Seattle (WA): University of Washington, Seattle. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1370.