Understanding Lab Tests for MELAS Syndrome

Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025

MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) is a rare genetic disorder affecting the mitochondria, the powerhouses of cells. While MELAS is primarily diagnosed through genetic testing and clinical evaluation, blood tests are fundamental for monitoring metabolic complications and assessing the body's response to mitochondrial dysfunction.

Recommended Test

Lactic Acid, Plasma

This test measures lactic acid levels in the blood plasma, which are often elevated in MELAS syndrome due to impaired mitochondrial function. When mitochondria cannot efficiently produce energy, cells resort to less efficient processes that generate excess lactic acid, making this test essential for monitoring metabolic dysfunction and disease activity.

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Why Blood Testing is Important in MELAS Syndrome

MELAS syndrome disrupts normal cellular energy production, leading to various metabolic abnormalities that can be detected and monitored through blood tests. These tests are crucial for tracking disease progression, managing complications, and guiding treatment decisions.

Understanding Lactic Acidosis in MELAS

Lactic acidosis is one of the hallmark features of MELAS syndrome. Regular monitoring of lactic acid levels helps healthcare providers assess the severity of mitochondrial dysfunction, track treatment effectiveness, and make informed decisions about patient care and management strategies.

Important Considerations

The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment of MELAS syndrome and related complications.

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