Living with Hypermethioninemia
Too much of the amino acid methionine in the blood, which often causes no symptoms.
Understanding Hypermethioninemia
It can happen when methionine is not broken down properly. People often have no symptoms. Some have intellectual disability or other nerve problems, delayed motor skills, sluggishness, muscle weakness, liver problems, or unusual facial features. Breath, sweat, or urine may smell like boiled cabbage. It can occur with other metabolic disorders, with liver disease, or from excess methionine in the diet.
Signs & symptoms
Many people have no symptoms. When symptoms occur, GARD's summary describes:
- Delayed motor skills
- Intellectual disability
- Sluggishness
- Muscle weakness
- Liver problems
- Boiled cabbage smell in breath, sweat, or urine
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 can occur when methionine is not broken down properly. It can happen with other metabolic disorders such as homocystinuria, tyrosinemia, and galactosemia, with liver disease, or from excess methionine in the diet. It is called primary when none of these apply.
Also known as: disorder of methionine catabolism; inborn error of methionine catabolic process; inborn methionine catabolic process disorder; increased methionine in blood; methioninemia; rare inborn error of methionine catabolic process
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 Hypermethioninemia.
Explore research for Hypermethioninemia
Explore actively recruiting Hypermethioninemia studies with HealthSpark.
Find actively recruiting studies for Hypermethioninemia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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