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Plasma Amino Acid and Urine Organic Acid Analyses in Leigh Syndrome  

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)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.22, no.1, 2022 , pp. 28-36 More about this Journal
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.
Keywords
Plasma amino acid; Urine organic acid; Leigh syndrome; Mitochondrial disease;
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