Living with Homocystinuria without methylmalonic aciduria
An inherited condition affecting how the body uses vitamin B12, with anemia and nervous system problems.
Understanding Homocystinuria without methylmalonic aciduria
It is marked by megaloblastic anemia (large, fewer red blood cells), brain illness (encephalopathy), and sometimes developmental delay. There are three types: cblE, cblG, and cblD-variant 1. It can show up at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Seizures
- Low muscle tone (hypotonia)
- Faltering weight gain
- Fast eye movements (nystagmus)
- Changes in the outer layer of the brain
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: functional methionine synthase deficiency; methylcobalamin deficiency
Patient organizations
- HCU Network AmericaHomocystinuria without methylmalonic aciduria · United States
- Child Neurology FoundationHomocystinuria without methylmalonic aciduria · United States
You are more than your diagnosis
Perspectives from people navigating life with Homocystinuria without methylmalonic aciduria.
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