Maternal 3-methylcrotonyl-coenzyme A car- boxylase deficiency with elevated 3-hydroxyiso- valerylcarnitine in breast milk

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...

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Bibliographic Details
Published in:Clinical and experimental pediatrics 2016, 59(0), , pp.41-44
Main Authors: Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu Hwan Kim, 이준화
Format: Article
Language:English
Subjects:
소아과학
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Summary: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. KCI Citation Count: 1
ISSN:2713-4148