Living with Methylcobalamin deficiency type cblG
A rare inherited condition in which the body cannot process certain amino acids, often starting in the first year of life.
Understanding Methylcobalamin deficiency type cblG
Signs usually start in the first year of life but can begin from infancy to adulthood. Common features are feeding difficulties, low energy, seizures, low muscle tone, developmental delay, a small head, and a type of anemia (megaloblastic anemia).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties and poor weight gain
- Seizures
- Low muscle tone (hypotonia)
- Developmental delay
- Small head (microcephaly)
- Megaloblastic anemia
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 blood and bone marrow specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MTR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
HCU Network America may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: HCU Network America
- 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 HCU Network America
- 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 MTR gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: functional methionine synthase deficiency type cblg; hmag; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type; homocystinuria-megaloblastic anemia, cblg complementation type; homocystinuria-megaloblastic anemia, cblg type
Patient organizations
- HCU Network AmericaMethylcobalamin deficiency type cblG · United States
You are more than your diagnosis
Perspectives from people navigating life with Methylcobalamin deficiency type cblG.
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