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Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency

Rebecca C Ahrens-Nicklas1, Louise C Pyle1, Can Ficicioglu1

  • 1Section of Metabolic Disease, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|May 6, 2016
PubMed

Insights

Exclusive breastfeeding poses a risk for infants with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) before newborn screening (NBS) results are available. Increased breastfeeding rates correlate with higher risks of early metabolic decompensation in these infants.

Area of Science:

  • Metabolic Disorders
  • Newborn Screening
  • Pediatric Health

Background:

  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is a genetic disorder affecting fatty acid metabolism.
  • Newborn screening (NBS) has significantly reduced morbidity and mortality for MCAD.
  • Some infants still develop symptoms before NBS results are confirmed.

Purpose of the Study:

  • To assess the current risk of early decompensation in neonates with MCAD.
  • To identify factors contributing to poor outcomes in this population.
  • To investigate the role of exclusive breastfeeding as a risk factor.

Main Methods:

  • Retrospective analysis of neonates diagnosed with MCAD between 2010 and 2015.
  • Review of clinical data, including symptoms, outcomes, and feeding practices.
  • Correlation of breastfeeding rates with rates of early decompensation.

Main Results:

  • 23.9% of infants with MCAD were symptomatic before NBS results.
  • All symptomatic infants were exclusively breastfed.
  • Rates of early decompensation increased from 9.09% to 75% as breastfeeding rates rose from 45.5% to 87.5%.

Conclusions:

  • Exclusive breastfeeding is a significant risk factor for early metabolic decompensation in neonates with MCAD.
  • Increasing breastfeeding rates necessitate close monitoring of feeding in infants awaiting NBS results.
  • Proactive management of feeding is crucial to prevent severe outcomes in at-risk neonates.
Abstract

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