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

• Published in: Clinical and experimental pediatrics Vol. 59; no. Suppl 1; pp. S41 - S44
• Main Authors: Cho, Kyung Lae, Kim, Yeo Jin, Yang, Song Hyun, Kim, Gu-Hwan, Lee, Jun Hwa
• Format: Journal Article
• Language: English
• Published: Korea (South) Clinical and Experimental Pediatics / Korean Pediatric Society 01.11.2016; The Korean Pediatric Society; Korean Pediatric Society
• Subjects: 3-Hydroxyisovalerylcarnitine; 3-MCC deficiency; Amino acids; Asymptomatic; Babies; Breast milk; Breastfeeding & lactation; Case Report; Conflicts of interest; Genes; Korean; Laboratories; Mass spectrometry; Medical screening; Metabolism; Metabolites; Mothers; Mutation; Newborn babies; Scientific imaging; Urine; Taiwan; Korean; 3-MCC deficiency; 3-Hydroxyisovalerylcarnitine; Breast milk
• ISSN: 1738-1061; 2092-7258; 2713-4148
• DOI: 10.3345/kjp.2016.59.11.S41

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.