Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to metabolize lipid called sphingomyelin. Consequently, sphingomyelin and other substances accumulate in various tissues of the body. ASMD is highly variable and the age of onset, specific symptoms and severity of the disorder can vary dramatically from one person to another, sometimes even among members of the same family. The disorder may be best thought of as a spectrum of disease. At the severe end of the spectrum is a fatal neurodegenerative disorder that presents in infancy (Niemann-Pick disease type A). At the mild end of the spectrum, affected individuals have no or only minimal neurological symptoms and survival into adulthood is common (Niemann-Pick disease type B). Intermediate forms of the disorder exist as well. ASMD is caused by mutations in the SMPD1 gene and is inherited in an autosomal recessive manner.
Cite this article:
Meera Minnu Mohan. Acid Sphingomyelinase Deficiency (ASMD). Asian J. Nursing Education and Research. 2021; 11(2):291-293. doi: 10.5958/2349-2996.2021.00070.7
Meera Minnu Mohan. Acid Sphingomyelinase Deficiency (ASMD). Asian J. Nursing Education and Research. 2021; 11(2):291-293. doi: 10.5958/2349-2996.2021.00070.7 Available on: https://ajner.com/AbstractView.aspx?PID=2021-11-2-30
1. Irun P, Mallen M, Dominguez C, et al. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. Clin Genet. 2013;84:356-361. http://www.ncbi.nlm.nih.gov/pubmed/23252888
4. Schuchman EH, Wasserstein MP. Types A and B Niemann-Pick disease. Best Pract Res Clin EndocrinolMetab. 2015;29:237-247. http://www.ncbi.nlm.nih.gov/pubmed/25987176