Living with Combined oxidative phosphorylation defect type 4
A rare mitochondrial condition in newborns with acid build-up, breathing trouble, developmental regression and brain changes.
Understanding Combined oxidative phosphorylation defect type 4
Newborns have too much acid in the blood and breathing difficulty. Lactic acid stays high with episodes of metabolic crisis. Children may lose skills, have a small head, low tone in the trunk with stiff limbs, and little spontaneous movement. Brain scans show changes such as extra folds, white matter differences and cysts.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these:
- Acid build-up in the blood in newborns
- Breathing difficulty
- Loss of developmental skills
- Small head size (microcephaly)
- Low tone in the trunk with stiff limbs
- Trouble fixing and following with the eyes
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 TUFM 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 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 the TUFM gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency caused by mutation in tufm; combined oxidative phosphorylation deficiency type 4; coxpd4; coxpd4 - combined oxidative phosphorylation defect type 4; tufm combined oxidative phosphorylation deficiency
Patient organizations
- 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 4.
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