A 2-year-old girl was brought to the Emergency Department having collapsed at home. She was unconscious and apnoeic with a sinus bradycardia of 50 beats/min. Cardiopulonary resuscitation (CPR) was commenced and her airway was secured. Epinephrine and atropine were administered. The blood glucose was found to be <0.5 mmol/l. There were minimal ketones found in both urine and serum. A bolus of 5 ml/kg of 10% dextrose was administered. Following a third cycle of CPR, a strong pulse was palpated with a sinus tachycardia. Subsequent metabolic screening tests confirmed a diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Despite the higher prevalence of hypoglycaemia in children requiring non-trauma-related resuscitation care, there is significant variability in time to checking blood glucose. In any clinical situation necessitating fatty acid oxidation, such as periods of fasting or metabolic stress due to intercurrent illness or infection, patients with MCAD deficiency will have continued glucose consumption with reduced or absent formation of ketones. The result of this is severe hypoglycaemia and hypoketonuria. 18% of patients with MCAD deficiency present with sudden death, and total mortality rate before diagnosis is estimated at 24%. Without diagnosis, preventative interventions to avoid further metabolic decompensation and possible neurological involvement could not be made.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.