- Acute Flaccid Myelitis
- Alzheimer’s Disease
- Arteriovenous Malformations
- Attention Deficit Hyperactivity Disorder
- Back Pain
- Brain Aneurysm
- Brain Tumors
- Carpal Tunnel Syndrome
- Childhood Brain Tumors
- Delirium
- Dementia
- Hemorrhagic Stroke
- Ischemic Stroke
- Memory
- Meningitis
- Mild Cognitive Impairment
- Movement Disorders
- Multiple Sclerosis
- Neuroblastoma
- Neuromuscular Disorders
- Parkinson’s Disease
- Polio and Post-Polio Syndrome
- Speech and Language Problems in Children
- Stroke
- Transient Ischemic Attack
- Tremor
- Walking Problems
- West Nile Virus
- A1C
- Blood Glucose
- Diabetes
- Diabetes and Pregnancy
- Diabetes Complications
- Diabetes in Children and Teens
- Diabetes Medicines
- Diabetes Type 1
- Diabetes Type 2
- Diabetic Diet
- Diabetic Eye Problems
- Diabetic Foot
- Diabetic Heart Disease
- Diabetic Kidney Problems
- Diabetic Nerve Problems
- How to Prevent Diabetes
- Hyperglycemia
- Metabolic Syndrome
- Prediabetes
- Abortion
- Breast Cancer
- Breast Diseases
- Breast Reconstruction
- Breastfeeding
- Cervical Cancer
- Cervical Cancer Screening
- Cesarean Delivery
- Childbirth
- Ectopic Pregnancy
- Endometriosis
- Female Infertility
- Health Problems in Pregnancy
- High Blood Pressure in Pregnancy
- HIV and Pregnancy
- Hormone Replacement Therapy
- HPV
- Hysterectomy
- Infections and Pregnancy
- Mammography
- Mastectomy
- Menopause
- Menstruation
- Miscarriage
- Ovarian Cancer
- Ovarian Cysts
- Ovarian Disorders
- Pelvic Floor Disorders
- Pelvic Inflammatory Disease
- Pelvic Pain
- Period Pain
- Polycystic Ovary Syndrome
- Pregnancy
- Pregnancy and Drug Use
- Pregnancy and Opioids
- Premenstrual Syndrome
- Prenatal Care
- Prenatal Testing
- Primary Ovarian Insufficiency
- Sexual Problems in Women
- Stillbirth
- Teenage Pregnancy
- Trichomoniasis
- Tubal Ligation
- Uterine Cancer
- Uterine Diseases
- Uterine Fibroids
- Vaginal Bleeding
- Vaginal Cancer
- Vaginal Diseases
- Vaginitis
- Vulvar Cancer
- Vulvar Disorders
- Yeast Infections
- Alcohol
- Calcium
- Child Nutrition
- Cholesterol
- Cholesterol Levels: What You Need to Know
- Cholesterol Medicines
- DASH Eating Plan
- Eating Disorders
- Food Allergy
- HDL: The “Good” Cholesterol
- High Cholesterol in Children and Teens
- How to Lower Cholesterol
- How to Lower Cholesterol with Diet
- Infant and Newborn Nutrition
- LDL: The “Bad” Cholesterol
- Malabsorption Syndromes
- Nutrition for Older Adults
- Pregnancy and Nutrition
- Toddler Nutrition
- Triglycerides
- VLDL Cholesterol
- Alpha-1 Antitrypsin Deficiency
- Ataxia Telangiectasia
- Brain Malformations
- Cerebral Palsy
- Charcot-Marie-Tooth Disease
- Chiari Malformation
- Cleft Lip and Palate
- Color Blindness
- Congenital Heart Defects
- Craniofacial Abnormalities
- Cystic Fibrosis
- Ehlers-Danlos Syndrome
- Fetal Alcohol Spectrum Disorders
- Friedreich Ataxia
- Genetic Counseling
- Hemophilia
- Huntington’s Disease
- Hydrocephalus
- Muscular Dystrophy
- Neural Tube Defects
- Neurofibromatosis
- Newborn Screening
- Osteogenesis Imperfecta
- Prader-Willi Syndrome
- Pregnancy and Medicines
- Rett Syndrome
- Sickle Cell Disease
- Spina Bifida
- Spinal Muscular Atrophy
- Tay-Sachs Disease
- Tourette Syndrome
- Tuberous Sclerosis
- Usher Syndrome
- Acute Lymphocytic Leukemia
- Allergy
- Animal Bites
- Ankylosing Spondylitis
- Aplastic Anemia
- Asthma
- Asthma in Children
- Childhood Leukemia
- Childhood Vaccines
- Chronic Lymphocytic Leukemia
- COVID-19 Vaccines
- Cryptosporidiosis
- Eosinophilic Disorders
- Eosinophilic Esophagitis
- Giant Cell Arteritis
- Hay Fever
- HIV
- HIV and Infections
- HIV in Women
- Hodgkin Lymphoma
- Infectious Diseases
- Infectious Mononucleosis
- Juvenile Arthritis
- Kawasaki Disease
- Lymphedema
- Lymphoma
- Multiple Myeloma
- Pemphigus
- Pneumocystis Infections
- Rheumatoid Arthritis
- Scleroderma
- Sjogren’s Syndrome
- Tonsillitis
- Vaccines
- Viral Infections
- Adhesions
- Ankle Injuries and Disorders
- Arm Injuries and Disorders
- Back Injuries
- Brachial Plexus Injuries
- Burns
- Chest Injuries and Disorders
- Concussion
- CPR
- Dislocated Shoulder
- Dislocations
- Elbow Injuries and Disorders
- Eye Injuries
- Facial Injuries and Disorders
- Finger Injuries and Disorders
- Foot Injuries and Disorders
- Fractures
- Hand Injuries and Disorders
- Heel Injuries and Disorders
- Hip Injuries and Disorders
- Inhalation Injuries
- Insect Bites and Stings
- Jaw Injuries and Disorders
- Knee Injuries and Disorders
- Leg Injuries and Disorders
- Mosquito Bites
- Neck Injuries and Disorders
- Rotator Cuff Injuries
- Shoulder Injuries and Disorders
- Spinal Cord Injuries
- Sprains and Strains
- Tick Bites
- Toe Injuries and Disorders
- Traumatic Brain Injury
- Wrist Injuries and Disorders
- Acute Bronchitis
- Bird Flu
- Chronic Bronchitis
- COPD
- COVID-19 (Coronavirus Disease 2019)
- Croup
- E-Cigarettes
- Fistulas
- Flu
- Granulomatosis with Polyangiitis
- H1N1 Flu (Swine Flu)
- Legionnaires’ Disease
- Lung Cancer
- Mesothelioma
- Pneumonia
- Pulmonary Hypertension
- Respiratory Syncytial Virus Infections
- Sleep Apnea
- Smoking
- Tuberculosis
- Whooping Cough
- Anatomy
- Assisted Reproductive Technology
- Birth Control
- Chlamydia Infections
- Circumcision
- Erectile Dysfunction
- Genital Herpes
- Genital Warts
- Gonorrhea
- Herpes Simplex
- Infertility
- Male Infertility
- Penis Disorders
- Prostate Cancer
- Prostate Cancer Screening
- Prostate Diseases
- Reproductive Hazards
- Sexual Health
- Sexual Problems in Men
- Sexually Transmitted Diseases
- Syphilis
- Testicular Cancer
- Testicular Disorders
- Vasectomy
- Abdominal Pain
- Bad Breath
- Bleeding
- Breathing Problems
- Bruises
- Chest Pain
- Choking
- Chronic Pain
- Constipation
- Cough
- Diarrhea
- Dizziness and Vertigo
- Edema
- Fainting
- Fever
- Frostbite
- Gas
- Gastrointestinal Bleeding
- Headache
- Heartburn
- Heat Illness
- Hives
- Hypothermia
- Indigestion
- Itching
- Jaundice
- Nausea and Vomiting
- Pain
- Rare Diseases
- Raynaud’s Disease
- Sciatica
- Speech and Communication Disorders
- Stuttering
Mitochondrial Diseases
Summary
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.
Genetics
- 2-hydroxyglutaric aciduria: MedlinePlus Genetics National Library of Medicine
- ACAD9 deficiency: MedlinePlus Genetics National Library of Medicine
- Barth syndrome: MedlinePlus Genetics National Library of Medicine
- Carnitine palmitoyltransferase I deficiency: MedlinePlus Genetics National Library of Medicine
- Carnitine palmitoyltransferase II deficiency: MedlinePlus Genetics National Library of Medicine
- Carnitine-acylcarnitine translocase deficiency: MedlinePlus Genetics National Library of Medicine
- Combined oxidative phosphorylation deficiency 1: MedlinePlus Genetics National Library of Medicine
- Cytochrome c oxidase deficiency: MedlinePlus Genetics National Library of Medicine
- Deoxyguanosine kinase deficiency: MedlinePlus Genetics National Library of Medicine
- Ethylmalonic encephalopathy: MedlinePlus Genetics National Library of Medicine
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: MedlinePlus Genetics National Library of Medicine
- Glutaric acidemia type II: MedlinePlus Genetics National Library of Medicine
- GRACILE syndrome: MedlinePlus Genetics National Library of Medicine
- HSD10 disease: MedlinePlus Genetics National Library of Medicine
- Leber hereditary optic neuropathy: MedlinePlus Genetics National Library of Medicine
- Leigh syndrome: MedlinePlus Genetics National Library of Medicine
- Maternally inherited diabetes and deafness: MedlinePlus Genetics National Library of Medicine
- Mitochondrial complex I deficiency: MedlinePlus Genetics National Library of Medicine
- Mitochondrial complex III deficiency: MedlinePlus Genetics National Library of Medicine
- Mitochondrial complex V deficiency: MedlinePlus Genetics National Library of Medicine
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: MedlinePlus Genetics National Library of Medicine
- Mitochondrial membrane protein-associated neurodegeneration: MedlinePlus Genetics National Library of Medicine
- Mitochondrial neurogastrointestinal encephalopathy disease: MedlinePlus Genetics National Library of Medicine
- Mitochondrial trifunctional protein deficiency: MedlinePlus Genetics National Library of Medicine
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome: MedlinePlus Genetics National Library of Medicine
- Multiple mitochondrial dysfunctions syndrome: MedlinePlus Genetics National Library of Medicine
- Myoclonic epilepsy with ragged-red fibers: MedlinePlus Genetics National Library of Medicine
- Neuropathy, ataxia, and retinitis pigmentosa: MedlinePlus Genetics National Library of Medicine
- Ornithine translocase deficiency: MedlinePlus Genetics National Library of Medicine
- Primary coenzyme Q10 deficiency: MedlinePlus Genetics National Library of Medicine
- Progressive external ophthalmoplegia: MedlinePlus Genetics National Library of Medicine
- Succinate-CoA ligase deficiency: MedlinePlus Genetics National Library of Medicine
- Succinyl-CoA:3-ketoacid CoA transferase deficiency: MedlinePlus Genetics National Library of Medicine
Specifics
- Alpers’ Disease National Institute of Neurological Disorders and Stroke
- Barth Syndrome (BTHS) National Institute of Neurological Disorders and Stroke
- Overview of Barth Syndrome Barth Syndrome Foundation
Encyclopedia
- Antimitochondrial antibody Medical Encyclopedia
Clinical Trials
- ClinicalTrials.gov: Mitochondrial Diseases National Institutes of Health
Related Issues
- Frequently Asked Questions on Mitochondrial Disease Centers for Disease Control and Prevention
Reference Desk
- Mitochondrial DNA: MedlinePlus Genetics National Library of Medicine
Start Here
- Mitochondrial Myopathies National Institute of Neurological Disorders and Stroke
- What Is Mitochondrial Disease Muscular Dystrophy Association
- What Is Mitochondrial Disease? United Mitochondrial Disease Foundation
Journal Articles
Find an Expert
- United Mitochondrial Disease Foundation United Mitochondrial Disease Foundation