Acid Sphingomyelinase Deficiency News and Information

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Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin. Consequently, sphingomyelin and other substances accumulate in various tissues of the body.  Acid sphingomyelinase is one of the enzymes that make up the sphingomyelinase (SMase) family, responsible for catalyzing the breakdown of sphingomyelin to ceramide and phosphorylcholine.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.

Acid Sphingomyelinase Deficiency News and Information

See below for updated news and information regarding Acid Sphingomyelinase Deficiency including new research, treatments and advancements. 

Latest Acid Sphingomyelinase Deficiency News

UK Phase 2/3 acid sphingomyelinase deficiency trial begins

European Pharmaceutical ReviewNov 3, 2016
ASMD is a serious and life-threatening disorder caused by insufficient activity of the enzyme acid sphingomyelinase resulting in accumulation …

Sanofi Genzyme Begins Pivotal Phase 2/3 Trial of Olipudase Alfa for

Business Wire (press release)Jul 6, 2016
… manifestations of acid sphingomyelinase deficiency (ASMD), also … by insufficient activity of the enzyme acid sphingomyelinase resulting in …

Sanofi Genzyme Leadership in Rare Diseases Highlighted at …

Business Wire (press release)Feb 26, 2016
Each is caused by a genetic problem that results in the deficiency or malfunction of particular enzymes needed to remove waste material from …

Emerging roles for lipids in non-apoptotic cell death

Nature.comMar 11, 2016
Thus, treatment of cells with the saturated fatty acid (SFA) palmitate (16 : 0, …… Combined deficiency in glutathione peroxidase 4 and vitamin E causes …. Marí M. Cathepsin B overexpression due to acid sphingomyelinase …