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KMID : 0918520160160030123
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Journal of the Korean Society of Inherited Metabolic Disease
2016 Volume.16 No. 3 p.123 ~ p.134
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Mitochondrial Disease: Will it become a New Great Imitator?
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Kim Young-Han
Ahn Seok-Min
Seo Young-Jun
Yoon Jong-Hyung
Bae Eun-Joo
Lee Hong-Jin
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Abstract
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Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Diagnosis of mitochondrial disease is difficult, subtle, and has many problems. It is more likely to miss the diagnosis of mitochondrial disease, especially in borderline cases where the symptoms of the disease are not severe. In this regard, urine organic acid analysis is noninvasive and can increase the sensitivity and specificity through repeated load test with few changes according to the specimen. And, It is considered to be suitable as a screening test for mitochondrial diseases because it has a great advantage of distinguishing from organic aciduria, urea cycle disorder
and fatty acid oxidation disorder which may have similar symptoms. The purpose of this study was to investigate the clinical features and age distribution of mitochondrial diseases diagnosed by organic acid analysis and to establish the policy of diagnosis and treatment based on this study.
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KEYWORD
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Mitochondrial disease, Urine organic acid analysis, Lactic acid
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