MELAS Syndrome Blood Test

What is MELAS Syndrome?

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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What causes MELAS syndrome?

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.

What is the best test for MELAS syndrome?

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.

When should I get tested for MELAS syndrome?

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.

What are the symptoms of MELAS syndrome?
MELAS syndrome symptoms typically appear in childhood or early adulthood and include stroke-like episodes causing temporary paralysis or vision loss, recurrent seizures, severe migraines often with vomiting, and progressive muscle weakness. You might also experience exercise intolerance, hearing loss, diabetes, short stature, and cognitive difficulties including memory problems or learning disabilities. Many people with MELAS develop lactic acidosis, which can cause nausea, vomiting, rapid breathing, and abdominal pain, particularly during illness or physical stress when energy demands increase.
Who is at risk for MELAS syndrome?
MELAS syndrome follows a maternal inheritance pattern, so you are at risk if your mother carries a mitochondrial DNA mutation, regardless of whether she shows symptoms. The severity varies widely because the percentage of mutated mitochondria differs among individuals and tissues. Family members on the maternal side may show different symptoms or no symptoms at all. While MELAS is rare, affecting approximately 1 in 4,000 people, those with a known family history should consider genetic counseling, especially women planning to have children since they can pass the mutation to all their offspring.
What happens if MELAS syndrome is left untreated?
Untreated MELAS syndrome can lead to progressive neurological damage from recurrent stroke-like episodes, causing permanent paralysis, vision loss, or cognitive impairment. Uncontrolled seizures may worsen brain damage, while chronic lactic acidosis can affect multiple organs including the heart, kidneys, and liver. Many people develop cardiomyopathy (heart muscle disease), which can lead to heart failure if not monitored. Metabolic crises triggered by illness, dehydration, or physical stress can be life-threatening without proper management. Early monitoring with blood tests like the Lactic Acid, Plasma test helps prevent complications and guides treatment to preserve quality of life.
Can MELAS syndrome be diagnosed with a blood test?
Blood tests cannot definitively diagnose MELAS syndrome, but they play a crucial role in monitoring the condition and supporting clinical diagnosis. The Lactic Acid, Plasma test detects elevated lactic acid levels, a hallmark feature of MELAS that reflects mitochondrial dysfunction. Definitive diagnosis requires genetic testing to identify specific mitochondrial DNA mutations, often combined with muscle biopsy showing ragged red fibers and abnormal mitochondria. However, regular blood testing for lactic acid is essential for ongoing disease management, tracking metabolic changes, and detecting complications before they become severe.
How is MELAS syndrome treated?
MELAS syndrome treatment focuses on managing symptoms and preventing complications since there is no cure. Healthcare providers often prescribe supplements including coenzyme Q10, L-arginine, and L-carnitine to support mitochondrial function and improve energy production. Seizures are controlled with anti-epileptic medications, while managing diabetes, hearing loss, and heart problems as they develop. During metabolic crises, intravenous fluids and glucose help stabilize lactic acid levels. Some people benefit from physical therapy to maintain muscle strength and occupational therapy to adapt to limitations. Regular monitoring with the Lactic Acid, Plasma test helps healthcare providers adjust treatments and prevent severe metabolic complications.
How can I prevent MELAS syndrome?
MELAS syndrome cannot be prevented since it is caused by inherited mitochondrial DNA mutations, but you can reduce the risk of metabolic crises and complications through careful management. Avoid excessive physical exertion, fasting, dehydration, and alcohol, which can trigger lactic acidosis episodes. Promptly treat infections and illnesses to prevent metabolic stress on the body. If you have a family history of MELAS, genetic counseling before having children can help you understand the risks since mothers pass mitochondrial mutations to all their children. Preimplantation genetic diagnosis and other reproductive options may be available to prevent passing the mutation to the next generation.
What can I do at home for MELAS syndrome?
At home, maintain a consistent routine with balanced meals throughout the day to avoid fasting and keep blood sugar stable, which helps prevent metabolic stress. Stay well-hydrated, especially during illness or hot weather, and pace activities to avoid overexertion that can trigger lactic acidosis. Keep a symptom diary to track patterns and identify triggers for stroke-like episodes or seizures. Work with your healthcare provider to develop an emergency action plan for metabolic crises. Consider joining support groups for mitochondrial disorders to connect with others facing similar challenges. Regular monitoring of lactic acid levels through blood tests helps you and your healthcare team catch problems early before they become serious.
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