Living with Combined oxidative phosphorylation defect type 14
A rare mitochondrial condition with hard-to-treat seizures, delayed development and feeding problems starting in infancy.
Understanding Combined oxidative phosphorylation defect type 14
Seizures that are hard to treat begin in the newborn period or infancy, with delayed or absent development and lactic acid build-up. Other features include poor feeding, slow weight gain, small head size, low muscle tone, anemia and low platelets.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures, including myoclonic seizures
- Profound developmental delay
- Feeding difficulties
- Small head size (microcephaly)
- Shrinking of parts of the brain (atrophy)
- Muscle jerks (myoclonus)
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 genetic specialists.
- 3Consider genetic testing
Changes in FARS2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: 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 CureARS 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 the FARS2 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 14; combined oxidative phosphorylation deficiency caused by mutation in fars2; combined oxidative phosphorylation deficiency type 14; coxpd14; coxpd14 - combined oxidative phosphorylation defect type 14; fars2 combined oxidative phosphorylation deficiency
Patient organizations
- CureARSCombined oxidative phosphorylation defect type 14 · 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 Combined oxidative phosphorylation defect type 14.
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