A Fatal Neonatal Presentation of Medium-chain Acyl Coenzyme A Dehydrogenase Deficiency  

Oleh:

Cyriac, J. ; Venkatesh, V. ; Gupta, C.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of International Medical Research vol. 36 no. 03 (May 2008), page 609-610.

Ketersediaan

Perpustakaan FK Nomor Panggil: J11.K.2008.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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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