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Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: A novel cause of mild methylmalonic aciduria

✍ Scribed by C. Melissa Dobson; Abigail Gradinger; Nicola Longo; Xuchu Wu; Daniel Leclerc; Jordan Lerner-Ellis; Melissa Lemieux; Caroline Belair; David Watkins; David S. Rosenblatt; Roy A. Gravel

Book ID: 116987847
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 392 KB
Volume: 88
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2006.03.009

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A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

✍ H. Bikker; H.D. Bakker; N.G.G.M. Abeling; B.T. Poll-The; W.J. Kleijer; D.S. Rose 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 195 KB

## Communicated by Johannes Zschocke Methylmalonic aciduria (MMA-uria) is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine, and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hypera