Abstract

Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive fatty acid β-oxidation defect. The enzyme, medium chain acyl-CoA dehydrogenase is important in the breakdown of medium chain fats into acetyl-CoA to produce ketones. Ketones are used as an alternative energy source when glucose or hepatic glycogen stores become depleted during prolonged fasting. In MCADD during periods of fasting or acute illness, there are insufficient ketones to compensate for the glucose energy deficit, resulting in an hypoketotic hypoglycaemia alongside a build-up of fatty acids. This build-up of fatty acids can be neurotoxic and lead to altered brain function and even unexpected death. Management includes avoiding prolonged periods of starvation, consuming high carbohydrate drinks during periods of illness and in symptomatic patients, reversal of catabolism and sustained anabolism by provision of simple carbohydrates by mouth or intravenously. Coexistence of MCADD and type 1 diabetes (T1D) is rare, there is no causal association though there are some documented cases. A key goal of management in T1D is achievement of good glycaemic control to reduce risk of long-term complications. This can in some cases increase the risk of hypoglycaemia which can be catastrophic in the presence of MCAD