Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk

• Main Authors: Kyung Lae Cho (Author), Yeo Jin Kim (Author), Song Hyun Yang (Author), Gu-Hwan Kim (Author), Jun Hwa Lee (Author)
• Format: Book
• Published: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...