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Living with Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

A rare mitochondrial condition that affects the liver and brain, causing developmental delay, weak muscles, and eye movement problems.

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Understanding Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) is a rare mitochondrial condition that mainly affects the liver and the brain.

It is caused by a lack of a protein called DGUOK, which greatly lowers the amount of DNA in mitochondria. This can cause liver problems, delays in development, weak muscles, and rapid, involuntary eye movements. It can also cause a buildup of lactic acid and low blood sugar. Signs can appear from birth to childhood.

Signs & symptoms

GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:

  • Liver problems
  • Delays in reaching developmental milestones
  • Weak muscles
  • Rapid, involuntary eye movements (nystagmus)
  • Lactic acid buildup
  • Low blood sugar

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include digestive system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in DGUOK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect 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
Bring these questions to your next doctor visit
Can genetic testing for the DGUOK gene confirm this diagnosis?
How should liver health and blood sugar be monitored?
Which specialists should be part of my child's care team?

Quick facts

Symptoms usually startfrom Birth to Childhood
InheritanceAutosomal Recessive, Mitochondrial
GenesDGUOK

This condition is caused by changes in the DGUOK gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.

GeneticGastrointestinalInherited MetabolicMitochondrial

Also known as: dguok mitochondrial dna depletion syndrome; dguok-related mitochondrial dna depletion syndrome, hepatocerebral form; mitochondrial dna depletion syndrome 3; mitochondrial dna depletion syndrome caused by mutation in dguok; mitochondrial dna depletion syndrome type 3

Patient organizations

Source: NIH GARD · Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)GARD ID 13644 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

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