Living with Methylmalonic acidemia due to transcobalamin receptor defect
A rare inherited condition with moderately raised methylmalonic acid, where most people have no symptoms.
Understanding Methylmalonic acidemia due to transcobalamin receptor defect
People are usually without symptoms, but newborn screening shows raised levels of certain markers. Homocysteine may be normal or moderately raised. Blocked blood vessels in the retina leading to severe vision loss have been reported. It starts in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary says people are usually without symptoms.
- Usually no symptoms
- High methylmalonic acid in blood and urine
- Blocked retina blood vessels (reported)
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 CD320 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 CD320 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cd320 methylmalonic acidemia; matr; methylmalonic acidemia caused by mutation in cd320; methylmalonic acidemia tcb1r type; methylmalonic acidemia, tcb1r type; methylmalonic acidemia, tcbir type
Patient organizations
- Organic Acidemia AssociationMethylmalonic acidemia due to transcobalamin receptor defect · United States
You are more than your diagnosis
Perspectives from people navigating life with Methylmalonic acidemia due to transcobalamin receptor defect.
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