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Volume 358:647 February 7, 2008 Number 6
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More on Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in a Neonate

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To the Editor: Rice and colleagues (Oct. 25 issue)1 report a severe neonatal presentation of medium-chain acyl–coenzyme A dehydrogenase (MCAD) deficiency and suggest that newborn screening results should be communicated by 72 hours of age. In practice, it is unlikely that newborn screening, however timely, could prevent such events. My colleagues and I documented fatal neonatal presentations in 4 of the 81 patients with MCAD deficiency who were born in Australia between 1994 and 2004.2 All died before 72 hours. Five babies in the cohort with other fatty acid–oxidation defects also died, between 22 and 65 hours of age.

Reporting . . . [Full Text of this Article]


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Medium Chain Acyl–Coenzyme A Dehydrogenase Deficiency in a Neonate
Rice G., Brazelton T. III, Maginot K., Srinivasan S., Hollman G., Wolff J. A.
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N Engl J Med 2007; 357:1781, Oct 25, 2007. Correspondence

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