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Mitochondrial Diseases
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Metabolic Problems

Mitochondrial Diseases

Mitochondrial diseases are a group of metabolic disorders caused by defective mitochondria, the structures responsible for energy production in cells.

Overview

Metabolism is the process your body uses to make energy from the food you eat. Mitochondria are small structures found in almost all cells that produce energy by combining oxygen with fuel molecules (sugars and fats). When mitochondria are defective, cells do not receive enough energy, and unused oxygen and fuel molecules build up, causing cellular damage.

Symptoms and Impact

The symptoms of mitochondrial disease vary depending on the location and number of defective mitochondria. While sometimes only one organ or tissue is affected, the problem often impacts multiple areas.

  • Common Issues: Because muscle and nerve cells have high energy needs, muscular and neurological problems are common.
  • Severity: The diseases range from mild to severe, and some types can be fatal.

Causes and Treatment

These diseases are caused by genetic mutations and typically manifest before age 20, with some types being more common in infants. Currently, there are no cures, but treatments focus on managing symptoms and slowing disease progression:

  • Physical therapy
  • Vitamins and supplements
  • Special diets
  • Medicines

Frequently Asked Questions

Testing typically involves a blood or muscle biopsy to assess mitochondrial DNA mutations. Because many mitochondrial disorders are inherited maternally, family members—especially mothers and siblings—may also need screening. A genetic counselor can guide the process and interpret results.===
Short, low‑intensity activities like walking, gentle cycling, or swimming are usually tolerated. Use a “work hard, rest hard” approach: limit sessions to 15–20 minutes and allow ample recovery. Monitor for increased fatigue or muscle pain and adjust intensity accordingly.
Look for a pattern of worsening fatigue after exercise, muscle weakness that improves with rest, frequent muscle cramps, and episodes of unexplained shortness of breath. If these symptoms persist or worsen, especially when combined with developmental delays or neurological signs, seek evaluation for a mitochondrial disorder.
high‑calorie, high‑protein diet with added medium‑chain triglycerides (MCTs) can help supply energy. Many patients benefit from supplements such as coenzyme Q10, L‑carnitine, riboflavin (vitamin B2), and vitamin D, but always discuss doses with a clinician before starting.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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