Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency

Long-chain 3-hydroxyacyl-coA dehydrogenase (LCHAD) deficiency is an inherited disease characterized by lethargy, weakness, vomiting, and low blood sugar. It can quickly progress to liver problems, seizures, coma, and death if untreated. LCHAD deficiency involves abnormalities in an enzyme involved in the breakdown of long-chain fatty acids that are used for energy in cells. Symptoms associated with LCHAD deficiency are due to low levels of energy and the toxic build-up of fatty acids in cells, especially in the liver and brain. View testing options