title: Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child.
abstract: Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD) is a disorder of fatty acid β oxidation inherited in an autosomal recessive manner. The enzyme is useful in hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting. It is a cause of hypoketotic hypoglycaemia in a previously well child. MCADD is not part of newborn screening in Ireland; children are likely to be missed if routine hypoglycaemic screen is not instituted when blood glucose level is below 2.6 mmol/L. This is a case of an otherwise healthy 23-month-old baby girl who presented with severe hypoglycaemia with some initial diagnostic dilemma.
authors.affiliation: Department of Paediatrics, Cork University Hospital Group, Cork, Ireland.
authors.forename: Kene Ebuka
authors.initials: KE
authors.lastname: Maduemem
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology* / Q000235:genetics; D007223:Infant; D007494:Ireland; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*
chemical_list: D042964:Acyl-CoA Dehydrogenase