Living with Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
A rare mitochondrial condition that affects the brain, nerves, and muscles, usually beginning in early infancy.
Understanding Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Symptoms differ from person to person. They may include muscle weakness, hearing loss, and difficulty feeding and breathing. Other symptoms may include severe low muscle tone, developmental delay, and trouble with thinking skills. Symptoms usually begin in early infancy and get worse over time. Diagnosis is based on symptoms, an exam, imaging, a muscle biopsy, and may be confirmed with genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in reaching developmental milestones
- Intellectual disability
- Seizures
- Hearing loss from inner ear changes
- Poor balance and coordination (ataxia)
- 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 SUCLA2 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
GARD says this condition is caused by changes in the SUCLG1 gene (also known as the SUCLA1 gene) and is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: booth-haworth-dilling syndrome; mitochondrial dna depletion syndrome 5; mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); mitochondrial dna depletion syndrome type 5; mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related; mitochondrial encephalomyopathy aminoacidopathy
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, encephalomyopathic form with methylmalonic aciduria.
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