Molecular genetics of methylenetetrahydrofolate reductase deficiency.

doi:10.1007/BF01799831

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Article

Molecular genetics of methylenetetrahydrofolate reductase deficiency.

Journal of inherited metabolic disease - 1 Jan 1996

Rozen R

Abstract excerpt

In severe MTHFR deficiency with neonatal or adolescent onset, 9 rare mutations have been identified. In mild MTHFR deficiency with thermolabile enzyme, a single common mutation (an alanine-to-valine substitution) is involved, but a genetic-nutrient interactive effect is required to produce mild h...

Topics

Animals
Arteriosclerosis
DNA, Complementary
Genetic Variation
Homocystinuria
Humans
Methylenetetrahydrofolate Reductase (NADPH2)
Molecular Biology
Mutation
Oxidoreductases Acting on CH-NH Group Donors
Temperature

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