Living with Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
An inherited condition, not helped by vitamin B12, where the body can't break down certain amino acids and fats.
Understanding Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Without the enzyme, harmful substances like methylmalonic acid build up and can damage the nervous system, kidneys, and other organs. Symptoms usually begin in infancy or early childhood. Long-term issues can include developmental delay, intellectual disability, an enlarged liver, chronic kidney disease, and pancreatitis. GARD says B12 supplements are not helpful.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Vomiting and dehydration
- Low energy (lethargy)
- Low muscle tone (hypotonia)
- Breathing trouble
- Developmental delay and intellectual disability
- Enlarged liver
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, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in MMUT 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); Kidney specialists (nephrologists)
- 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 and other patient organizations
- 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 MMUT gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: mamm; methylmalonic acidemia due to methylmalonyl-coa mutase deficiency; methylmalonic aciduria mut type; methylmalonic aciduria, mut type; methylmalonyl-coa mutase deficiency; methylmalonyl-coenzyme a mutase deficiency
Patient organizations
- Organic Acidemia AssociationMethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
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