释义 |
5,10-methylenetetrahydrofolate reductase deficiency 5,10-methylenetetrahydrofolate reductase deficiency MTHFR reductase An AR condition that is more common in ♀, characterized by developmental delay, motor, gait and typical EEG changes and early death Lab ↑ Homocysteine in serum and urine, ↓ methionine |