Living with Combined malonic and methylmalonic acidemia
A genetic condition where certain acids build up in the body, with symptoms that can start in childhood or adulthood.
Understanding Combined malonic and methylmalonic acidemia
Methylmalonic acid is higher than malonic acid in the urine. In some children, acid build-up makes the blood too acidic (ketoacidosis). Others have muscle and developmental problems. Some people have no symptoms until adulthood, when seizures, memory loss, trouble thinking or psychiatric problems can appear.
Signs & symptoms
Symptoms vary from person to person. GARD lists seizures as most common, and the summary describes these features:
- Seizures
- Muscle tensing (dystonia) and weak muscle tone
- Developmental delay
- Slow growth and weight gain
- Low blood sugar (hypoglycemia)
- Memory loss in adults
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 ACSF3 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 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 ACSF3 gene are listed. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: cmamma; cmamma - combined malonic and methylmalonic aciduria; combined malonic and methylmalonic aciduria
Patient organizations
- Organic Acidemia AssociationCombined malonic and methylmalonic acidemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined malonic and methylmalonic acidemia.
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