Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk / 소아과
Korean Journal of Pediatrics
; : S41-S44, 2016.
Article
em En
| WPRIM
| ID: wpr-228466
Biblioteca responsável:
WPRO
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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Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Espectrometria de Massas
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Mama
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Éxons
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Triagem Neonatal
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Leite Humano
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Biologia Molecular
Limite:
Female
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Humans
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Infant
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Newborn
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article