Of note, a mutation in Sphingomyelin phosphodiesterase 1 (also known as acid sphingomyelinase, ASM) causes Niemann-pick disease, characterized by the buildup of toxic amount of sphingomyelin and leading to multi-organ dysfunction (including profound brain damage) (Schuchman and Desnick, 2017). The gene discussed is SMPD1; the disease is Niemann-Pick disease.