Living with Mitochondrial DNA depletion syndrome 9
A rare condition that affects infants, causing brain and muscle disease, high lactic acid, and severe developmental delay.
Understanding Mitochondrial DNA depletion syndrome 9
It causes a severe disease of the brain and muscles (encephalomyopathy), high levels of lactic acid, and a substance called methylmalonic acid in the urine. Signs include severe developmental delay and low muscle tone. It can also cause trouble gaining weight, feeding difficulties, and involuntary muscle contractions. Epilepsy and other birth differences may be present. Signs start in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy (floppy infant)
- Delays in reaching developmental milestones
- Trouble gaining weight and feeding difficulties
- Brain disease (encephalopathy)
- Enlarged liver
- Muscle wasting
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 and genetic specialists.
- 3Consider genetic testing
Changes in SUCLG1 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)
- 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 SUCLG1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fatal infantile lactic acidosis; fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria; fatal infantile lactic acidosis with methylmalonic aciduria; mitochondrial dna depletion syndrome caused by mutation in suclg1; mitochondrial dna depletion syndrome type 9; mtdps9
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 9.
Explore research for Mitochondrial DNA depletion syndrome 9
Explore actively recruiting Mitochondrial DNA depletion syndrome 9 studies with HealthSpark.
Find actively recruiting studies for Mitochondrial DNA depletion syndrome 9 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Mitochondrial DNA depletion syndrome 9 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Mitochondrial DNA depletion syndrome 9
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Mitochondrial DNA depletion syndrome 9 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.