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Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency

Jeff Eichhorst1, Jane Alcorn, Joyce Lepage

  • 1Department of Pathology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

Molecular Genetics and Metabolism
|July 13, 2010
PubMed

Insights

A newborn screen showed elevated 3-hydroxyisovalerylcarnitine (C(5)OH). Maternal blood and breast milk also had high C(5)OH, suggesting it as the source for the infant.

Area of Science:

  • Biochemistry
  • Neonatal screening
  • Metabolic disorders

Background:

  • Newborn screening programs detect inborn errors of metabolism.
  • Elevated 3-hydroxyisovalerylcarnitine (C(5)OH) can indicate metabolic issues.
  • 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is a known cause of elevated C(5)OH.

Purpose of the Study:

  • To investigate the cause of elevated C(5)OH in a neonate with no apparent 3-MCC deficiency.
  • To determine the source of persistently elevated C(5)OH in the infant.
  • To explore the role of maternal factors in neonatal C(5)OH levels.

Main Methods:

  • Newborn screening analysis for C(5)OH.
  • Serial blood testing of the neonate.
  • Analysis of maternal blood and breast milk for C(5)OH levels.

Main Results:

  • Neonate presented with positive newborn screen for C(5)OH.
  • Neonate showed persistently elevated C(5)OH despite absence of 3-MCC deficiency.
  • Mother exhibited markedly elevated C(5)OH in blood and breast milk.

Conclusions:

  • Elevated C(5)OH in the neonate was likely due to maternal C(5)OH transfer via breast milk.
  • Maternal 3-MCC deficiency can lead to significant C(5)OH transfer to the neonate.
  • This highlights the importance of considering maternal metabolic status in neonatal screening results.

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