Mito Action
Building Leadership
Mitochondrial disease is an inherited chronic illness that can be present at birth or develop later in life. It causes debilitating physical, developmental, and cognitive disabilities with symptoms including poor growth; loss of muscle coordination; muscle weakness and pain; seizures; vision and/or hearing loss; gastrointestinal issues; learning disabilities; and organ failure. For many patients, mitochondrial disease is an inherited condition that runs in families. An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins. It is estimated that 1 in 4,000 people has Mito. It’s progressive and there is no cure.
Last updated 04/30/2025
Clinical
Disease Class
Genetic diseases
Inherited metabolic disorder
Neurological diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Adrenal glands
Bladder
Bones
Brain
Connective tissue / joints
Ears
Esophagus
Eyes
Gallbladder
Heart
Intestines
Kidneys
Liver
Lungs
Lymph fluid, nodes, ducts, vessels
Mouth / teeth
Muscles
Nerves
Pancreas
Parathyroid
Pituitary glands
Spinal cord
Spleen
Stomach
Throat/pharynx
Thyroid
Trachea, cervical
Veins
Known Genetic Link
Yes, genetic factors contribute to the risk or severity of the condition
causative_genes
None specified / unknown
contributory_genes
None specified / unknown
Type of Inheritance
Mitochondrial
Newborn Screening
Yes, for some genes
Yes, in some states
Disease Mechanism(s)
Inherited metabolic disorder
Mitochondrial disorder
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Average Age at Diagnosis
Adolescence (12-17)
Early childhood (age 1+-5)
Infancy (age 0-1)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Middle childhood (6-11)
Affected Sex(es)
Female
Intersex
Male
National Prevalence
10000+
Global Prevalence
10000+
National Incidence
Less than 10
Global Incidence
Less than 10
Symptoms / Phenotypes
breathing difficulties
developmental delay
feeding difficulties
headaches / migraines
hearing loss / hearing impairment
hypotonia
intellectual delay / global developmental delay
muscle weakness
myalgia / muscle pain
seizures / epilepsy
vision problems
Biomarkers
Diagnostic
· Lactate and pyruvate: Initial blood tests that can indicate possible mitochondrial disease Lactate:pyruvate ratio: A biomarker for mitochondrial disease Creatine kinase: A biomarker for mitochondrial disease Amino acid profiles: A biomarker for mitochondrial disease FGF-21 and GDF-15: Metabokines that are messengers of mitochondrial stress response Oxidative stress markers: Biomarkers that indicate mitochondrial disease Circulating cytokines: Biomarkers that indicate mitochondrial disease
Monitoring
· Lactate and pyruvate: Initial blood tests that can indicate possible mitochondrial disease Lactate:pyruvate ratio: A biomarker for mitochondrial disease Creatine kinase: A biomarker for mitochondrial disease Amino acid profiles: A biomarker for mitochondrial disease FGF-21 and GDF-15: Metabokines that are messengers of mitochondrial stress response Oxidative stress markers: Biomarkers that indicate mitochondrial disease Circulating cytokines: Biomarkers that indicate mitochondrial disease
Prognostic
· Lactate and pyruvate: Initial blood tests that can indicate possible mitochondrial disease Lactate:pyruvate ratio: A biomarker for mitochondrial disease Creatine kinase: A biomarker for mitochondrial disease Amino acid profiles: A biomarker for mitochondrial disease FGF-21 and GDF-15: Metabokines that are messengers of mitochondrial stress response Oxidative stress markers: Biomarkers that indicate mitochondrial disease Circulating cytokines: Biomarkers that indicate mitochondrial disease
Therapeutic
· Lactate and pyruvate: Initial blood tests that can indicate possible mitochondrial disease Lactate:pyruvate ratio: A biomarker for mitochondrial disease Creatine kinase: A biomarker for mitochondrial disease Amino acid profiles: A biomarker for mitochondrial disease FGF-21 and GDF-15: Metabokines that are messengers of mitochondrial stress response Oxidative stress markers: Biomarkers that indicate mitochondrial disease Circulating cytokines: Biomarkers that indicate mitochondrial disease
Existing Therapies
FDA-Approved for Symptom Relief
· Dijolvi for LCHADD only
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
None
Disease Model, share
N/A
Clinical Trial Role
Data sharing
Focus group
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Results dissemination, publication
Study protocol design, review
Biobank, Institution
NIH
Biobank, Involvement
Consulted
Center of Excellence, Institution
Unspecified
Center of Excellence, Involvement
Consulted
Designed
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Other
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Patient-reported outcomes
Platform, Natural History Study
Not specified
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
We are working on obtaining an ICD-10 code
Diagnostic Guidelines
Yes, we have guidance available on our website
Yes, we have published formal guidelines in a peer-reviewed journal
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
Asia
Europe
North America
South America