Living with Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
A rare mitochondrial condition that affects the liver, kidneys, and nervous system, starting in the newborn period or early infancy.
Understanding Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
It starts in the newborn period or early infancy with liver disease, along with a kidney tube problem (tubulopathy) and nervous system changes that worsen over time. These can include muscle wasting, poor coordination, nerve damage, seizures, hearing loss, and loss of skills. Babies often have repeated vomiting, severe trouble gaining weight, feeding difficulties, and low blood sugar when they have not eaten.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Liver disease with an enlarged liver
- Kidney tube problems (renal tubulopathy)
- Repeated vomiting and feeding difficulties
- Severe trouble gaining weight
- Low blood sugar when fasting
- Seizures and hearing loss
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 brain and nervous system specialists, digestive system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in TWNK 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
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 National Kidney 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 TWNK gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form; mitochondrial dna depletion syndrome hepatocerebrorenal form; mtdna depletion syndrome, hepatocerebrorenal form
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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