Homocystinuria due to methylene tetrahydrofolate reductase deficiency
From BugSigDB
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
- Aliases
- 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 deficiency of N(5,10)-methylenetetrahydrofolate reductase activity
- homocystinuria due to methylene tetrahydrofolate reductase deficiency
- homocystinuria due to MTHFR deficiency
- Methylene tetrahydrofolate reductase deficiency
- methylene tetrahydrofolate reductase deficiency
- Methylenetetrahydro-folate reductase deficiency
- methylenetetrahydrofolate reductase deficiency
- MTHFR deficiency
- MTHFR deficiency, thermolabile type
