Cyriac J, Venkatesh V, Gupta C
Paediatric Department, St John's Hospital, Wood Street, Chelmsford, UK.
J Int Med Res. 2008 May-Jun;36(3):609-10. doi: 10.1177/147323000803600330.
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.
