Acid Sphingomyelinase Deficiency (ASMD)

Acid Sphingomyelinase Deficiency, also known as niemann-pick disease, type a, is related to chronic visceral acid sphingomyelinase deficiency and infantile neurovisceral acid sphingomyelinase deficiency, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1). The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver and bone marrow.