Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.
10.3345/kjp.2016.59.11.S41
- Author:
Kyung Lae CHO
1
;
Yeo Jin KIM
;
Song Hyun YANG
;
Gu Hwan KIM
;
Jun Hwa LEE
Author Information
1. Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea. ljh3643@hanmail.net
- Publication Type:Case Report
- Keywords:
3-MCC deficiency;
3-Hydroxyisovalerylcarnitine;
Breast milk;
Korean
- MeSH:
Breast*;
Exons;
Female;
Humans;
Infant;
Infant, Newborn;
Mass Spectrometry;
Milk, Human*;
Molecular Biology;
Neonatal Screening
- From:Korean Journal of Pediatrics
2016;59(Suppl 1):S41-S44
- CountryRepublic of Korea
- Language:English
-
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.
