Living with Vitamin B12-responsive methylmalonic acidemia
An inherited metabolism condition affecting how the body uses vitamin B12, often showing in childhood and responding to B12.
Understanding Vitamin B12-responsive methylmalonic acidemia
GARD describes repeated episodes of coma or short bouts of vomiting and dehydration, low muscle tone, and learning difficulty. There are three types: cblA, cblB, and cblD-variant 2. It often shows in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nausea and vomiting
- Dehydration
- Low energy (lethargy)
- Low muscle tone (hypotonia)
- Developmental delay
- Poor 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
Specialists who may be involved include genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 National Kidney Foundation 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
GARD says changes in genes (variants) cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: adenosylcobalamin deficiency; adenosylcobalamin synthesis defect; methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis; methylmalonic aciduria, type ii; vitamin b12-responsive methylmalonic aciduria
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Vitamin B12-responsive methylmalonic acidemia.
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