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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 115 - 119 (5page)
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초록· 키워드
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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 (45.56μmol/L; reference range, <0.65 μmol/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.
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참고문헌 (23)
참고문헌 신청
[학술
Arnold GL / 2008 / A delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency / Mol Genet Metab 93 :
Bartlett K / 1984 / Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia / J Inherit Metab Dis 7 : 182 ~
Baumgartner MR / 2001 / The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency / J Clin Invest 107 : 495 ~ 504
Desviat LR / 2003 / Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria / Mol Genet Metab 80 : 315 ~ 320
Arnold GL / 2008 / A delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency / Mol Genet Metab 93 :
Bartlett K / 1984 / Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia / J Inherit Metab Dis 7 : 182 ~
Baumgartner MR / 2001 / The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency / J Clin Invest 107 : 495 ~ 504
Desviat LR / 2003 / Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria / Mol Genet Metab 80 : 315 ~ 320
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