Living with Mitochondrial DNA depletion syndrome, hepatocerebral form
An inherited condition (deoxyguanosine kinase deficiency) that can affect the liver, brain, and muscles.
Understanding Mitochondrial DNA depletion syndrome, hepatocerebral form
About 75 percent of people have the hepatocerebral form, with serious problems in the liver and brain. About 20 percent have an isolated liver form, and about 5 percent have a muscle form. Babies with the hepatocerebral form often have low blood sugar and lactic acid buildup soon after birth. Signs of liver and brain problems start within the first weeks of life. Symptoms can vary, even within one family.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Low blood sugar (hypoglycemia)
- Lactic acid buildup
- Enlarged liver and yellowing of the skin and eyes (jaundice)
- Low muscle tone (hypotonia)
- Rapid, involuntary eye movements (nystagmus)
- Delays in reaching developmental milestones
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
Changes in genes (also called variants) cause this condition. GARD lists autosomal recessive and mitochondrial inheritance, and describes it as deoxyguanosine kinase deficiency.
Also known as: deoxyguanosine kinase deficiency; mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency; mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency; mtdna depletion syndrome, hepatocerebral form
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 Mitochondrial DNA depletion syndrome, hepatocerebral form.
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