Living with 3-methylglutaconic aciduria type 4
A varied group of rare metabolic conditions that share a high level of an acid in the urine and often affect development.
Understanding 3-methylglutaconic aciduria type 4
It is used for people who have this urine finding but do not fit types 1, 2, or 3. Because it is such a mixed group, symptoms differ a lot. Features can include developmental delay, intellectual disability, low muscle tone, and seizures. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Low muscle tone (hypotonia)
- Muscle stiffness (spasticity)
- Seizures
- Not gaining weight as expected
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 3 alpha methylglutaconic aciduria type iv; 3-methylglutaconic aciduria type iv; mga type iv; mga, type iv; mga4; mgca4
Patient organizations
- Organic Acidemia Association3-methylglutaconic aciduria type 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-methylglutaconic aciduria type 4.
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