Living with Mitochondrial complex I deficiency
A type of mitochondrial disease in which cells make less energy, which can affect the brain, heart, muscles, liver, and eyes.
Understanding Mitochondrial complex I deficiency
Mitochondria make more than 90% of the energy the body needs. Complex I is the first step in that process. Features can include a large head with changes in the brain's white matter, brain disease (encephalopathy), thickened heart muscle, muscle disease, liver disease, Leigh syndrome, and Leber hereditary optic neuropathy. It can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Damage to the optic nerve
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Low muscle tone and muscle weakness
- Delays in reaching developmental milestones
- Enlarged liver
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in any of many genes cause this condition, and how it is inherited depends on the gene involved. GARD lists autosomal recessive, X-linked, and mitochondrial inheritance.
Also known as: complex 1 mitochondrial respiratory chain deficiency; complex i deficiency; isolated complex i deficiency; isolated mitochondrial respiratory chain complex i deficiency; isolated nadh-coenzyme q reductase deficiency; isolated nadh-coq reductase deficiency
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mitochondrial complex I deficiency.
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