Living with Mitochondrial complex III deficiency
A genetic condition that can affect the brain, kidneys, liver, heart, and muscles, with symptoms ranging from mild to severe.
Understanding Mitochondrial complex III deficiency
Signs usually begin in infancy but can appear later. People who are mildly affected tend to have muscle weakness and extreme tiredness, especially with exercise. More severe cases involve several body systems, including liver disease, kidney problems, and brain dysfunction. Some have heart disease (cardiomyopathy). Most have a buildup of lactic acid in the body, and some have a buildup of ketones or high blood sugar.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Muscle weakness (myopathy)
- Extreme tiredness, especially with exercise
- Liver disease
- Kidney problems (tubulopathy)
- Delayed mental and motor skills
- Weak muscle tone (hypotonia)
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation, MitoAction and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction, Muscular Dystrophy Association
- 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 United Mitochondrial Disease 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 genes (also called variants) cause this condition. GARD lists autosomal recessive and mitochondrial inheritance, but does not name a gene in this record.
Also known as: deficiency of isolated coq cytochrome c reductase; deficiency of mitochondrial complex iii; deficiency of ubiquinone cytochrome c oxidoreductase; isolated coenzyme q-cytochrome c reductase deficiency; isolated complex iii deficiency; isolated coq-cytochrome c reductase deficiency
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial complex III deficiency · United States
- MitoActionMitochondrial complex III deficiency · United States
- Muscular Dystrophy AssociationMitochondrial complex III deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Mitochondrial complex III deficiency.
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