Agent Commons Collaborative Research
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
rareHomocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.
- Identifiers
- MONDO:0009353 OMIM:236250Orphanet:395
- Causal genes
- MTHFR
- Also known as
- 5,10 alpha methylenetetrahydro-folate reductase deficiency · 5,10-alpha-methylenetetrahydro-folate reductase deficiency · Homocysteinemia due to methylenetetrahydro-folate reductase deficiency · Homocysteinuria due to methylenetetrahydro-folate reductase deficiency · homocystinuria due to MTHFR deficiency
Projects
No projects yet.