Acid Sphingomyelinase Deficiency (ASMD): Causes, Symptoms,Treatment
Acid Sphingomyelinase Deficiency or ASMD or generally called as Niemann-Pick disease also known as acid sphingomyelinase-deficient Niemann-Pick disease which Can be generally described as a rare genetic disorder which typically develops a deficiency of the enzyme acid sphingomyelinase in the body. The most important role of acid sphingomyelinase in your body is helps you to digest the lipid called sphingomyelin which is usually named as fatty substance that will be found in the animal cell membrane. Types Niemann-Pick disease type A (NPD-A) Niemann-Pick disease type B (NPD-B) Niemann-Pick disease type A/B (NPD-A/B) Causes The most common cause of Acid Sphingomyelinase Deficiency is any mutation that happens in the gene called sphingomyelin phosphodiesterase-1 (SMPD1) gene. The gene named SMPD1 generally The gene named SMPD1 typically develops instructions for generating a protein in the body which plays a major role in overall functioning of the body. If any mutation happen...