Living with Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
A rare inherited metabolic condition with mild to moderate methylmalonic acid, sometimes with no symptoms.
Understanding Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Some people have sudden episodes of too much acid in the blood with vomiting, dehydration, confusion, and hallucinations. Others have nonspecific nervous system symptoms, or no symptoms. It starts in infancy and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dehydration
- Acid reflux
- Poor weight gain
- Muscle stiffness (spasticity)
- Delayed motor skills
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 genetic specialists.
- 3Consider genetic testing
Changes in MCEE 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
- 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 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
Changes in the MCEE gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of methylmalonyl-coa epimerase; deficiency of methylmalonyl-coa racemase; deficiency of methylmalonyl-coenzyme a epimerase; deficiency of methylmalonyl-coenzyme a racemase; mcee deficiency; mcee-related methylmalonic acidemia
Patient organizations
- Organic Acidemia AssociationMethylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency.
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