Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk

  • Cho, Kyung Lae (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine) ;
  • Kim, Yeo Jin (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine) ;
  • Yang, Song Hyun (Green Cross Reference Laboratory) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Jun Hwa (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
  • Received : 2014.05.27
  • Accepted : 2014.11.07
  • Published : 2016.11.15
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Abstract

We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood spot and breast milk spot test by LC-MS/MS, serum amino acid analysis, urine organic acid and molecular genetic analysis that found c.838G>T (p.Asp280Tyr) homozygous mutation within exon 9 of the MCCB gene. Especially, we confirmed marked higher levels of C5-OH on breast milk spot by LC-MS/MS, in the case of maternal 3-MCC deficiency vs. controls.

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References

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