A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency.
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.
Cyriac
J
J
Paediatric Department, St John's Hospital, Wood Street, Chelmsford, UK. job.cyriac@meht.nhs.uk
Venkatesh
V
V
Gupta
C
C
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000201:enzymology* / Q000378:metabolism; D008297:Male
D042964:Acyl-CoA Dehydrogenase