Living with Homocystinuria due to methylene tetrahydrofolate reductase deficiency
A genetic condition where the body can't use folate (vitamin B9) well, affecting the nervous system and blood clotting.
Understanding Homocystinuria due to methylene tetrahydrofolate reductase deficiency
It happens when there is not enough working MTHFR enzyme. At least 40 rare MTHFR variants have been found. People usually have two rare variants, or sometimes a rare and a common one. Symptoms usually do not show in a newborn. They may include abnormal clotting, developmental delay, seizures, intellectual disability, and a small head.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Unsteady walking (gait problems)
- Poor balance and coordination (ataxia)
- Leg weakness and stiffness
- Nerve problems (peripheral neuropathy)
- Loss of mental skills
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in MTHFR 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, Epilepsy Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: HCU Network America, Epilepsy Foundation, The Foundation for Peripheral Neuropathy
- 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 the MTHFR gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: homocysteinuria due to mthfr deficiency; homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity; homocystinuria due to mthfr deficiency; methylene tetrahydrofolate reductase deficiency; mthfr deficiency
Patient organizations
- HCU Network AmericaHomocystinuria due to methylene tetrahydrofolate reductase deficiency · United States
- National Blood Clot AllianceHomocystinuria due to methylene tetrahydrofolate reductase deficiency · United States
- Epilepsy FoundationEpilepsy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Homocystinuria due to methylene tetrahydrofolate reductase deficiency.
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