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
References in periodicals archive ?
5,10-methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.