멜라스 증후군 진단에서의 혈장 아미노산과 소변 유기산 분석

Abstract

Purpose: In the past, detection of metabolic abnormalities in plasma amino acid (PAA) and urine organic acid (UOA) has been widely used to diagnose clinical mitochondrial diseases, such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). In this study, the diagnostic values of PAA and UOA were reviewed, and their effectiveness in the diagnosis of MELAS was examined retrospectively. Methods: Blood and urine samples at the time of diagnosis were collected from all clinically diagnosed MELAS patients (n=31), and PAA and UOA tests were performed. All samples were collected in a fasting state to minimize artifacts in the results. The difference in the ratio of abnormal metabolites of PAA and UOA at initial diagnosis was statistically compared between the MELAS with genetic confirmation (n=19, m.3243A>G mutation) and MELAS without genetic confirmation (n=12) groups. The MELAS without genetic confirmation group was used as control. Results: Comparison of PAA and UOA between the two groups revealed that no abnormal metabolites showed characteristic differences between gene-confirmed MELAS patients with and those without genetic confirmation. Conclusions: Abnormal values of metabolites in PAA or UOA might be useful as a screening test but are not sufficient to diagnose MELAS patients.