HMG-CoA lyase deficiency

HMG-CoA lyase deficiency is an inherited disease characterized by lethargy, vomiting, and low blood sugar. It can quickly progress to breathing problems, seizures, coma, and death if untreated. It involves defects in the production of enzyme 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-Co A lyase), which the body needs to break down fats and proteins to make energy. The symptoms of HMG-CoA lyase deficiency are due to a reduced energy production in cells and a toxic build-up of metabolites in the body leading to cellular damage—particularly in the brain. HMG-CoA lyase deficiency is also known as hydroxymethylglutaric aciduria. View testing options