/medium chain acyl-CoA dehydrogenase deficiency

medium chain acyl-CoA dehydrogenase deficiency

Rare Disease

MONDO:0008721

Also Known As

ACADM deficiencyAcyl-CoA dehydrogenase, medium chain, deficiency ofCarnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiencyMCADMCAD deficiencyMCADDacyl-CoA dehydrogenase, medium-chain deficiencymedium chain acyl-CoA dehydrogenase deficiencymedium chain acyl-coenzyme A dehydrogenase deficiencymedium-chain acyl-CoA dehydrogenase deficiencymedium-chain acyl-Coenzyme A dehydrogenase deficiencyACADMDCarnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiencyMcadh deficiencyacyl-CoA dehydrogenase medium chain deficiency ofacyl-CoA dehydrogenase, medium-chain, deficiency OFmedium chain acyl CoA dehydrogenase deficiency

Definition

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.