Hyperhomozysteinämie
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
OMIM: 236250
Synonyme
- Methylentetrahydrofolat-Reduktase (MTHFR)-Defizienz
- MTHFR-Mangel
- METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
- MTHFR DEFICIENCY
Gen locations
- MTHFR(OMIM 607093)