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Urine organic acids screen for the presence or absence of specific compounds that can be found in mitochondrial and other metabolic disorders. When there are blocks in various metabolic pathways, certain compounds are elevated and others are depleted. Organic acids are one of the studies that look for changes in the levels of various compounds caused by metabolic blocks. While this test is often unremarkable in mitochondrial disease, the detection of certain compounds such as Krebs cycle intermediates, ethylmalonic acid and tiglyglycine, all suggest mitochondrial dysfunction and are the most common urine organic acid abnormalities seen in mitochondrial disease. However, some very rare subtypes of mitochondrial disease such as that caused by mutations in the SERAC1 gene can cause very distinctive patterns of organic acids including the excretion of 3-methylglutaconic acid. The take-home message is that patients being screened for mitochondrial disease should undergo organic acid analysis and, certain findings can be very helpful in making and pointing towards a mitochondrial diagnosis.
Fran Kendall, M.D.
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