Living with Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
An inherited condition that causes liver disease and nerve problems, beginning in infancy, and is seen often in the Navajo population.
Understanding Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Signs begin in infancy and typically include vomiting, diarrhea, and trouble gaining weight. Many infants have lactic acid buildup and low blood sugar. Liver disease develops in the first weeks of life, and later many have developmental delay, low muscle tone, and reduced feeling in the limbs. It is most often seen in the Navajo population of the southwestern United States, where it is called Navajo neurohepatopathy. People with Navajo neurohepatopathy may also have trouble sensing pain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Liver disease and liver failure
- Enlarged liver
- Fluid build-up in the belly (ascites)
- Vomiting, diarrhea, and acid reflux
- Trouble gaining weight
- Nerve problems, with balance and walking difficulty
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 MPV17 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
This condition is caused by changes in the MPV17 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mitochondrial dna depletion syndrome type 6; navajo neurohepatopathy; navajo neuropathy
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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