Lab Med Online.  2011 Apr;1(2):115-119. 10.3343/lmo.2011.1.2.9.

Identification of a Novel Mutation in the MCCC2 Gene of a Korean Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiency

Affiliations
  • 1Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital and Soonchunhyang University College of Medicine, Seoul, Korea.
  • 2Department of Pediatrics, Soonchunhyang University Seoul Hospital and Soonchunhyang University College of Medicine, Seoul, Korea.
  • 3Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 4Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital and Soonchunhyang University College of Medicine, Bucheon, Korea. lywmd@schmc.ac.kr

Abstract

3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder characterized by a defect in leucine catabolism. We report the case of an 80-day-old patient with 3-methylcrotonyl-CoA carboxylase deficiency who had elevated levels of 3-hydroxyisovalerylcarnitine (45.56 micromol/L; reference range, <0.65 micromol/L), which was detected using tandem mass spectrometry during newborn screening, and elevated levels of 3-hydroxyisovaleric acid (375.75 mmol/mol Cr) and 3-methylcrotonylglycine (502.36 mmol/mol Cr ), which were detected in urine organic acid analysis. We performed direct sequence analysis of all the exons of the MCCC1 and MCCC2 genes. No mutations were detected in the direct sequence analysis of MCCC1. However sequencing of the MCCC2 gene revealed a mutation caused by a heterozygous G to C transversion [c.313G>C (p.Gly105Arg)] at nucleotide position 313 and a mutation caused by a heterozygous A to T transversion [c.1252A>T (p.lle418Phe)] at nucleotide position 1252. Identification of these 2 novel MCCC2 gene mutations in our patient suggested that analysis of the MCCC1 and MCCC2 genes might prove useful in the diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency.

Keyword

3-Methylcrotonyl-CoA carboxylase; 3-Methylcrotonyl-CoA carboxylase deficiency; MCCC2 mutation
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