Living with Hepatic methionine adenosyltransferase deficiency
A very rare metabolic condition with high methionine in the blood, usually without symptoms.
Understanding Hepatic methionine adenosyltransferase deficiency
In most cases there are no symptoms, and it is usually a benign (harmless) condition. Some people have nervous system or developmental problems, or bad breath. It is found in infancy.
Signs & symptoms
Most people have no symptoms. GARD lists these as less common:
- Often no symptoms
- Bad breath
- Intellectual disability
- Involuntary muscle contractions (dystonia)
- Loss of the protective coating on nerves in the brain (CNS demyelination)
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 MAT1A 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
It is caused by changes in the MAT1A gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: brain demyelination due to methionine adenosyltransferase deficiency; deficiency of methionine adenosyltransferase; hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency; isolated persistent hypermethioninemia; mat deficiency; mat i/iii deficiency
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 Hepatic methionine adenosyltransferase deficiency.
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