Living with 3-methylglutaconic aciduria type 8
A rare metabolic condition that begins in newborns and affects muscle tone, breathing, feeding, and the brain.
Understanding 3-methylglutaconic aciduria type 8
Newborns have low muscle tone (hypotonia), pauses in breathing, feeding difficulties, little progress in development, abnormal movements, and seizures. Other reported features include a smaller head, hearing loss, a slow heartbeat, and low white blood cell counts. Tests show raised lactate and 3-methylglutaconic acid in the urine. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties
- Not gaining weight as expected
- Seizures
- Respiratory failure
- Low muscle tone (hypotonia)
- Pauses in breathing
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 HTRA2 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 rare disease patient organizations for support
- 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 HTRA2 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 type viii, mgca8; 3-methylglutaconic aciduria, type viii; 3-methylglutaconic aciduria, type viii; mgca8; mga8; mgca8
Patient organizations
Rare-disease groups that can help
- 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 8.
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