Unexpected neonatal death due to medium-chain acyl-CoA deficiency

Abstract

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation disorder, with an incidence of 1:19,000 live births in Australia.1 The typical presentation of MCADD is between 3 and 24 months of age and include hypoglycaemia, hepatomegaly and sudden death.2 Our case is a full term well grown male baby who was born in good condition. He became lethargic and had long periods without feeds on day 2 of life. On day 3 of life, he developed tachypnoea and grunting and was admitted to the Neonatal Intensive Care Unit at The Royal Children’s Hospital.