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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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5,10-methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.