Living with 3-Methylglutaconic aciduria type 3
A rare inherited metabolic condition that affects vision and movement, with optic nerve damage and involuntary movements.
Understanding 3-Methylglutaconic aciduria type 3
It is an organic aciduria. The key features are optic atrophy (damage to the nerve that carries vision from the eye to the brain) and choreoathetosis (slow, writhing involuntary movements). People also have 3-methylglutaconic acid in their urine. GARD lists onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Visual impairment
- Involuntary writhing movements (choreoathetosis)
- Balance and coordination problems (ataxia)
- Leg stiffness (spastic paraparesis)
- Involuntary eye movements (nystagmus)
- Difficulty with clear speech (dysarthria)
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 eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in OPA3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Organic Acidemia Association
- 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 OPA3 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 caused by mutation in opa3; 3-methylglutaconic aciduria type iii; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; costeff optic atrophy syndrome; costeff syndrome
Patient organizations
- Organic Acidemia Association3-Methylglutaconic aciduria type 3 · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-Methylglutaconic aciduria type 3.
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