Living with Methylmalonic acidemia
A group of inherited conditions in which the body can't properly break down proteins and fats, usually showing up in infancy.
Understanding Methylmalonic acidemia
Effects usually appear in early infancy and range from mild to severe. Babies may have vomiting, dehydration, weak muscle tone, delays, low energy, an enlarged liver, and slow growth. Long-term issues can include feeding problems, intellectual disability, movement problems, chronic kidney disease, and pancreatitis (inflamed pancreas). Episodes of too much acid in the blood (metabolic acidosis) can be serious.
Signs & symptoms
GARD doesn't list a separate symptom list, but its summary describes these:
- Vomiting and dehydration
- Weak muscle tone (hypotonia)
- Developmental delay
- Low energy (lethargy)
- Enlarged liver
- Slow growth and weight gain
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 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 it is a group of inherited disorders that prevent the body from breaking down proteins and fats properly. It does not name genes in this record.
Also known as: elevated circulating methylmalonic acid concentration; isolated methylmalonic acidemia; methylmalonic aciduria; mma; mma - methylmalonic aciduria
Patient organizations
- Organic Acidemia AssociationMethylmalonic acidemia · United States
You are more than your diagnosis
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Read articleExplore research for Methylmalonic acidemia
Explore actively recruiting Methylmalonic acidemia studies with HealthSpark.
Find actively recruiting studies for Methylmalonic acidemia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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