Living with 3-methylglutaconic aciduria type 9
A rare metabolic condition that affects the brain, with delayed development, seizures, and low muscle tone starting in infancy.
Understanding 3-methylglutaconic aciduria type 9
It brings early global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic acid in the urine. Other features can include low muscle tone, hyperactivity, aggressive behavior, optic atrophy, or muscle stiffness. Brain imaging may show brain shrinkage and white matter changes. GARD lists onset as infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Delayed walking and motor skills
- Low muscle tone (hypotonia)
- Prolonged repeated seizures (status epilepticus)
- Muscle weakness
- Aggressive behavior
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in TIMM50 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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 the TIMM50 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; 3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome; 3-methylglutaconic aciduria, type ix; 3-methylglutaconic acuduria type ix, mgca9; mga9
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-methylglutaconic aciduria type 9.
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