Living with Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
A severe inherited condition that mainly affects the brain and liver, starting in the newborn period.
Understanding Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
It starts in the newborn period. Most people have brain dysfunction (encephalopathy) that gets worse over time and trouble growing and gaining weight. Liver disease is common. Some have abnormal muscle tone, developmental delay, seizures, nerve damage in the limbs, and a small head. A buildup of lactic acid is also usual.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brain dysfunction (encephalopathy)
- Liver failure
- Seizures
- Delays in development
- Feeding difficulties in infancy
- Low muscle tone in the trunk
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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GFM1 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
- Digestive system specialists (gastroenterologists); 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
It is caused by changes in the GFM1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: combined oxidative phosphorylation deficiency caused by mutation in gfm1; combined oxidative phosphorylation deficiency type 1; gfm1 combined oxidative phosphorylation deficiency; hepatoencephalopathy due to coxpd1; hepatoencephalopathy due to coxpd1 (combined oxidative phosphorylation defect type 1); hepatoencephalopathy, early fatal progressive
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 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1.
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