title: The C677T mutation in the methylenetetrahydrofolate reductase gene predisposes to hyperhomocysteinemia in children with familial hypercholesterolemia treated with cholestyramine.
abstract: In children with familial hypercholesterolemia, heterozygosity and homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase gene was associated with low serum folate and increased susceptibility to elevation of plasma total homocysteine during cholestyramine treatment. Because of the independent relationship between elevated plasma total homocysteine and cardiovascular disease, folate supplementation may be prudent in these children.
authors.affiliation: Lipid Clinic, Medical Department A, National Hospital, Oslo, Norway.
authors.forename: S
authors.initials: S
authors.lastname: Tonstad
authors.forename: H
authors.initials: H
authors.lastname: Refsum
authors.forename: L
authors.initials: L
authors.lastname: Ose
authors.forename: P M
authors.initials: PM
authors.lastname: Ueland
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use; D002648:Child; D002792:Cholestyramine Resin / Q000627:therapeutic use; D005260:Female; D005492:Folic Acid / Q000097:blood; D005838:Genotype; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood*; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*
chemical_list: D000924:Anticholesteremic Agents; D006710:Homocysteine; D002792:Cholestyramine Resin; D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)