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Volume 357:1781 October 25, 2007 Number 17
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Medium Chain Acyl–Coenzyme A Dehydrogenase Deficiency in a Neonate

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To the Editor: Medium-chain acyl–coenzyme A dehydrogenase (MCAD) deficiency is the most frequently diagnosed defect in mitochondrial beta-oxidation, with a prevalence of 1 case per 15,000 persons in the United States.1 Since patients with MCAD deficiency typically present at 3 to 24 months of age with an unanticipated episode of life-threatening, hypoketotic hypoglycemia, the disease has been a prime impetus for the screening of newborns' blood with tandem mass spectroscopy, a major new public health initiative.

We report on a 3-day-old neonate with lethargy, ketotic hypoglycemia, and poor feeding; incessant ventricular tachyarrhythmia developed, which progressed to episodes of torsades de . . . [Full Text of this Article]


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More on Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in a Neonate
Wilcken B., Hoffman G., Rice G., Wolff J. A.
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N Engl J Med 2008; 358:647, Feb 7, 2008. Correspondence

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