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KMID : 0918520220220010028
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Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No. 1 p.28 ~ p.36
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Plasma Amino Acid and Urine Organic Acid Analyses in Leigh Syndrome
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Na Ji-Hoon
Lee Hyun-Joo
Lee Hae-In
Huh Eui-Ra
Lee Young-Mock
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Abstract
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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 mito- chondrial 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.
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KEYWORD
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Plasma amino acid, Urine organic acid, Leigh syndrome, Mitochondrial disease
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