MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) is a rare genetic disorder that disrupts cellular energy production in the mitochondria. It is caused by mutations in mitochondrial DNA, most commonly the m.3243A>G mutation in the MT-TL1 gene, which impairs the ability of cells to generate energy efficiently. The Lactic Acid, Plasma test is the most important test for monitoring MELAS syndrome because it detects elevated lactic acid levels that result from mitochondrial dysfunction.
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MELAS syndrome is caused by mutations in mitochondrial DNA that disrupt the normal function of mitochondria, the energy-producing structures in cells. The most common mutation is m.3243A>G in the MT-TL1 gene, which affects the production of proteins needed for cellular energy metabolism. Because mitochondria are inherited from the mother, MELAS syndrome follows a maternal inheritance pattern, and the severity can vary widely even within the same family depending on the percentage of mutated mitochondria in different tissues.
The Lactic Acid, Plasma test is the most important blood test for MELAS syndrome because it detects elevated lactic acid levels that occur when mitochondria cannot produce energy efficiently. When cells cannot generate adequate energy through normal mitochondrial processes, they switch to anaerobic metabolism, which produces excess lactic acid as a byproduct. Regular monitoring of plasma lactic acid levels helps healthcare providers assess the severity of mitochondrial dysfunction, track disease progression, and evaluate treatment effectiveness. While genetic testing is required for definitive diagnosis, the Lactic Acid, Plasma test remains essential for ongoing disease management and monitoring metabolic complications.
You should get tested if you experience unexplained stroke-like episodes before age 40, recurrent seizures, persistent muscle weakness, or exercise intolerance along with elevated lactic acid on routine blood work. Testing is especially important if you have a family history of maternal relatives with similar symptoms, unexplained neurological problems, or if you develop migraines with visual disturbances combined with hearing loss or diabetes. Early detection through lactic acid monitoring can help guide treatment decisions and prevent complications from metabolic crises.
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What this means
Your lactic acid level is elevated above the optimal range. This may indicate that your muscles are producing more lactate than your body can clear efficiently, which can happen during intense exercise, inadequate oxygen delivery to tissues, or metabolic stress. While mild elevations can be normal after physical activity, persistently high levels warrant further investigation.
Recommended actions
Avoid intense exercise for 24 hours before retesting to get an accurate baseline
Focus on improving cardiovascular fitness through regular moderate aerobic exercise
Ensure adequate hydration and consider B-vitamin rich foods like whole grains and leafy greens
Retest in 4-6 weeks and consult your doctor if levels remain elevated
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