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.