Living with 3-methylglutaconic aciduria type 1
An inherited metabolic condition that affects the brain and nerves, with delayed skills and movement and vision problems.
Understanding 3-methylglutaconic aciduria type 1
In infancy or early childhood, children often have delayed mental and motor skills, speech delay, involuntary muscle cramping (dystonia), and arm and leg stiffness and weakness. Some have optic atrophy, a loss of the nerve cells that carry vision to the brain. Symptoms can begin in adulthood, with damage to brain white matter and problems with speech, coordination, and thinking. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Not gaining weight as expected
- Global developmental delay
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 and genetic specialists.
- 3Consider genetic testing
Changes in AUH 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
- Brain and nervous system specialists (neurologists); 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 AUH gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent. People accumulate 3-methylglutaconic acid in body fluids.
Also known as: 3-methylglutaconic aciduria caused by mutation in auh; 3-methylglutaconic aciduria type i; 3-methylglutaconyl-coa hydratase deficiency; 3-methylglutaconyl-coa hydratase deficiency with 3-methylglutaconic acid; 3mg-coa hydratase deficiency; auh 3-methylglutaconic aciduria
Patient organizations
- Organic Acidemia Association3-methylglutaconic aciduria type 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-methylglutaconic aciduria type 1.
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