Abstract
Medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency is the most common of the inborn errors of mitochondrial fatty acid beta-oxidation. A male infant was born at 39 weeks of gestation following an uneventful pregnancy. He was discharged at age 28 h after a normal first-day check, but was subsequently re-admitted and died aged 44 h. Post-mortem blood and bile spot carnitine analysis revealed a profile consistent with MCAD deficiency. MCAD genotyping revealed 985 A to G (K329E) homozygosity. This is the first confirmed case of neonatal death due to MCAD deficiency in the UK.
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