Published online May 1, 2008
PEDIATRICS Vol. 121 No. 5 May 2008, pp. e1108-e1114 (doi:10.1542/peds.2007-1993)

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ARTICLE

Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening

Ho-Wen Hsu, MD^a, Thomas H. Zytkovicz, PhD^a, Anne Marie Comeau, PhD^a, Arnold W. Strauss, MD^b, Deborah Marsden, MD^c, Vivian E. Shih, MD^d, George F. Grady, MD^a and Roger B. Eaton, PhD^a

^a Department of Pediatrics, New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, Massachusetts
^b Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio
^c Department of Pediatrics, Children's Hospital Boston, Boston, Massachusetts
^d Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts

OBJECTIVE. Our goal was to describe the clinical spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by routine newborn screening and assess factors associated with elevations of octanoylcarnitine in newborns and characteristics associated with adverse clinical consequences of medium-chain acyl-CoA dehydrogenase deficiency.

METHODS. The first 47 medium-chain acyl-CoA dehydrogenase deficiency cases detected by the New England Newborn Screening Program were classified according to initial and follow-up octanoylcarnitine values, octanoylcarnitine-decanoylcarnitine ratios, medium-chain acyl-CoA dehydrogenase genotype, follow-up biochemical parameters, and feeding by breast milk or formula.

RESULTS. All 20 patients who were homozygous for 985AG had high initial octanoylcarnitine values (7.0–36.8 µM) and octanoylcarnitine-decanoylcarnitine ratios (7.0–14.5), whereas the 27 patients with 0 to 1 copy of 985AG exhibited a wide range of octanoylcarnitine values (0.5–28.6 µM) and octanoylcarnitine-decanoylcarnitine ratios (0.8–12.7). Initial newborn octanoylcarnitine values decreased by days 5 to 8, but the octanoylcarnitine-decanoylcarnitine ratio generally remained stable. Among 985AG homozygotes, breastfed newborns had higher initial octanoylcarnitine values than newborns who received formula. Adverse events occurred in 5 children, 4 985AG homozygotes and 1 compound heterozygote with a very high initial octanoylcarnitine: 2 survived severe neonatal hypoglycemia, 1 survived a severe hypoglycemic episode at 15 months of age, and 2 died as a result of medium-chain acyl-CoA dehydrogenase deficiency at ages 11 and 33 months.

CONCLUSION. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency has detected cases with a wide range of genotypes and biochemical abnormalities. Although most children do well, adverse outcomes have not been entirely avoided. Assessment of potential risk and determination of appropriate treatment remain a challenge.

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Key Words: newborn screening • metabolic disorders • fatty acid oxidation defects

Abbreviations: MCAD—medium-chain acyl-CoA dehydrogenase • C8—octanoylcarnitine • PCR—polymerase chain reaction • C10—decanoylcarnitine

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Accepted Oct 12, 2007.

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