대한유전성대사질환학회지 (Journal of The Korean Society of Inherited Metabolic disease)

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
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아이소발레린산혈증 신생아에서 발견된 새로운 돌연변이

Neonatal Onset Isovaleric Acidemia with Novel Mutation

  • 김영한 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 배은주 (한림대학교 의과대학 춘천성심병원 소아청소년과) ;
  • 박형두 (성균관대학교 의과대학 삼성서울병원 진단검사의학과) ;
  • 이홍진 (한림대학교 의과대학 춘천성심병원 소아청소년과)
  • Kim, Young Han (Department of Pediatrics, Hallym University College of Medicine) ;
  • Bae, Eun Ju (Department of Pediatrics, Hallym University College of Medicine) ;
  • Park, Hyung-Doo (Department of Laboratory Medicine and Genetics, Samsung Medical Center) ;
  • Lee, Hong Jin (Department of Pediatrics, Hallym University College of Medicine)
  • Published : 2016.04.25
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Abstract

Isovaleric acidemia is autosomal-recessively inherited and an inborn error of metabolism caused by abnormal leucine metabolism due to the genetic defect of IVD (Isovaleryl-CoA dehydrogenase). IVD corresponds to mitochondrial matrix enzyme that acts on converting isovaleryl-CoA into 3-methylcrotonyl-CoA in the leucine catabolism. The IVD gene is located at Chromosome 15q14-q15, particularly between base pair 40,405,485 and base pair 40,435,948. It consists of 12 exons and has been reported to cause over 50 diseases so far. We conducted IVD gene test on the patient with acute isovaleric acidemia and confirmed a new type of mutation for the first time. As a result of analyzing the IVD gene sequence, we found out that c.129T>G(p.Asn43Lys) and c.1033A>G(p.Asn345Asp) mutations exist as heterozygosity at Exon 1 and Exon 10 respectively, novel mutation.

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References

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