Year: 2007
Type: article
Abstract: 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 . . .
Source: New England Journal of Medicine
DOI: 10.1056/nejmc071277
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2126129117