Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.
About Mitochondrial Diseases
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.
Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage.
The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The diseases range from mild to severe. Some types can be fatal.
Genetic mutations cause these diseases. They usually happen before age 20, and some are more common in infants. There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.
It sits within Metabolic Problems.
When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.
Research on Mitochondrial Diseases
901 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.
What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.
Research currently under way
- A Study of SGT-212 Gene Therapy in Friedreich's AtaxiaSolid Biosciences Inc.
- The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of MetabolismNational Human Genome Research Institute (NHGRI)
- Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)Weill Medical College of Cornell University
- Natural History of MADDIcahn School of Medicine at Mount Sinai
- A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic AtrophyLudwig-Maximilians - University of Munich
- Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich AtaxiaUniversity of Exeter
Research already completed
- The Influence of Time-Restricted Eating in Patients With Metabolic SyndromeUniversity of California, San Diego
- Mitochondrial Metabolism and Oxidative Stress in Function of the Physical Exercise and Nutritional Counseling in T2DMUniversity of Cadiz
- A Study to Assess TTI-0102 vs Placebo in MELAS PatientsThiogenesis Therapeutics, Inc.
- PTPIP51-VAPB Complex in the Periodontal DiseaseInonu University
Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.
Where to read more
Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.
Start Here
- Mitochondrial DiseaseUnited Mitochondrial Disease Foundation
- Mitochondrial DisordersNational Institute of Neurological Disorders and Stroke
Genetics
- 2-hydroxyglutaric aciduria: MedlinePlus GeneticsNational Library of Medicine
- ACAD9 deficiency: MedlinePlus GeneticsNational Library of Medicine
- Barth syndrome: MedlinePlus GeneticsNational Library of Medicine
- Carnitine palmitoyltransferase I deficiency: MedlinePlus GeneticsNational Library of Medicine
- Carnitine palmitoyltransferase II deficiency: MedlinePlus GeneticsNational Library of Medicine
- Carnitine-acylcarnitine translocase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Combined oxidative phosphorylation deficiency 1: MedlinePlus GeneticsNational Library of Medicine
- Cytochrome c oxidase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Deoxyguanosine kinase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Ethylmalonic encephalopathy: MedlinePlus GeneticsNational Library of Medicine
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: MedlinePlus GeneticsNational Library of Medicine
- Glutaric acidemia type II: MedlinePlus GeneticsNational Library of Medicine
- GRACILE syndrome: MedlinePlus GeneticsNational Library of Medicine
- HSD10 disease: MedlinePlus GeneticsNational Library of Medicine
- Leber hereditary optic neuropathy: MedlinePlus GeneticsNational Library of Medicine
- Leigh syndrome: MedlinePlus GeneticsNational Library of Medicine
- Maternally inherited diabetes and deafness: MedlinePlus GeneticsNational Library of Medicine
- Mitochondrial complex I deficiency: MedlinePlus GeneticsNational Library of Medicine
- Mitochondrial complex III deficiency: MedlinePlus GeneticsNational Library of Medicine
- Mitochondrial complex V deficiency: MedlinePlus GeneticsNational Library of Medicine
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: MedlinePlus GeneticsNational Library of Medicine
Clinical Trials
- ClinicalTrials.gov: Mitochondrial DiseasesNational Institutes of Health
Medical subject headings
Clinicians and researchers index this subject under Mitochondrial Diseases. These are the terms to use when searching medical literature.
This page is built from the MedlinePlus health topic record for Mitochondrial Diseases, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.