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http://dx.doi.org/10.3345/kjp.2016.59.11.S41

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)
Publication Information
Clinical and Experimental Pediatrics / v.59, no.sup1, 2016 , pp. 41-44 More about this Journal
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.
Keywords
3-MCC deficiency; 3-Hydroxyisovalerylcarnitine; Breast milk; Korean;
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