Objective Medium-chain acyl coenzyme A dehydrogenase deficiency is the most common of the inborn errors of mitochondrial fatty acid β-oxidation. Typically the manifestations are seen between 3 months and 5.1 years of age, with 13% having symptoms in the neonatal period. Routine neonatal screening at day 5 with PKU card is being carried out in several countries worldwide.
Methods We present a case of medium-chain acyl coenzyme A dehydrogenase deficiency that presented fatally on day 2 of life. We also reviewed the literature looking for neonatal presentation and the neonatal screening done for medium-chain acyl coenzyme A dehydrogenase deficiency.
Results Routine neonatal screening at day 5 with the PKU card is being carried out in several countries world wide. Despite the possibility of early detection with the help of this programme, some neonates who present earlier might die even before the bloods are taken for routine screening.
Conclusions We are still miles to go before research can devise methods, either antenatal or postnatal for early detection of the deficiency.