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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Plasma Amino Acid and Urine Organic Acid Analyses in Leigh Syndrome

리증후군에서의 혈장 아미노산 및 소변 유기산 분석

  • Na, Ji-Hoon (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Lee, Hyunjoo (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Lee, Hae-in (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Huh, Euira (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Lee, Young-Mock (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine)
  • 나지훈 (연세대학교 의과대학 강남세브란스병원 소아청소년과) ;
  • 이현주 (연세대학교 의과대학 강남세브란스병원 소아청소년과) ;
  • 이해인 (연세대학교 의과대학 강남세브란스병원 소아청소년과) ;
  • 허이라 (연세대학교 의과대학 강남세브란스병원 소아청소년과) ;
  • 이영목 (연세대학교 의과대학 강남세브란스병원 소아청소년과)
  • Published : 2022.06.30
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Abstract

Purpose: Detection of abnormal metabolites in plasma amino acid (PAA) and urine organic acid (UOA) analyses has been used to diagnose clinical mitochondrial diseases, such as Leigh syndrome. In this study, the diagnostic values and effectiveness of PAA and UOA analyses were reviewed. Methods: This was a retrospective study of patients with Leigh syndrome who were diagnosed between 2003 and 2018 in a single tertiary care center. Through a whole mitochondrial sequencing and nuclear DNA associated mitochondrial gene panel analysis, 19 patients were found to be positive for mitochondrial DNA (mtDNA) mutation-associated Leigh syndrome, and 57 patients were negative. Their PAA and UOA analyses results were then compared. Results: In the comparison of the PAA and UOA analyses results between the two groups, no abnormal metabolites showed obvious differences between the mtDNA mutation-positive Leigh syndrome and mtDNA mutation-negative Leigh syndrome groups. Conclusion: PAA and UOA analyses are inappropriate test methods for diagnosing Leigh syndrome or screening of mtDNA mutation-associated Leigh syndrome. However, UOA analysis might still be a suitable screening test for Leigh syndrome.

목적: 혈장 아미노산(PAA) 및 소변 유기산(UOA) 분석에서 비정상적인 대사 산물의 검출은 리 증후군과 같은 임상 미토콘드리아 질환을 진단하는 데 사용되었다. 본 연구에서는 PAA 및 UOA 분석의 진단적 가치와 유효성을 검토하였다. 방법: 이 논문은 2003년에서 2018년 사이에 단일 3차 진료 센터에서 진단된 리 증후군 환자에 대상으로 후향적 연구로 진행되었다. 전체 미토콘드리아 시퀀싱 및 핵 DNA 관련 미토콘드리아 유전자 패널 분석을 통해 미토콘드리아 DNA (mtDNA) 돌연변이 관련 리 증후군에 대해 19명의 환자가 양성이었고 57명의 환자는 음성인 것으로 밝혀졌다. 그 이후에 PAA 및 UOA 분석 결과를 비교하였다. 결과: 두 그룹 간의 PAA 및 UOA 분석 결과를 비교한 결과, mtDNA 돌연변이 양성 Leigh 증후군과 mtDNA 돌연변이 음성 Leigh 증후군 그룹 간에 비정상적인 대사 산물은 뚜렷한 차이를 보이지 않았다. 결론: PAA 및 UOA 분석은 리 증후군을 진단하거나 mtDNA 돌연변이 관련 리 증후군을 선별하기 위한 부적절한 검사 방법이다. 그러나 UOA 분석은 여전히 리 증후군에 대한 적합한 선별 검사일 수 있다.

Keywords

Acknowledgement

The authors are grateful to all staff members, doctors, and statistical consultants who were involved in this study.

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