Living with Combined oxidative phosphorylation defect type 2
A rare mitochondrial condition seen in newborns with slow growth before birth, swelling, brain differences and low muscle tone.
Understanding Combined oxidative phosphorylation defect type 2
Newborns may have severe slow growth before birth, swelling of the limbs and extra skin on the neck. Brain differences, short fingers or toes, and facial differences such as low-set ears are described. Babies have lactic acid build-up, lethargy, low muscle tone and very little movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small size for gestational age
- Swelling (edema) and extra neck skin
- Low muscle tone in newborns
- Feeding difficulties
- Brain differences (missing corpus callosum)
- Short fingers or toes (brachydactyly)
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 MRPS16 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 MRPS16 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency caused by mutation in mrps16; combined oxidative phosphorylation deficiency type 2; corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis; coxpd2; coxpd2 - combined oxidative phosphorylation defect type 2; mrps16 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 2.
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