title: Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult.
abstract: Deficiency in methylenetetrahydrofolate reductase (MTHFR), the enzyme involved in the remethylation of homocysteine to methionine using methyltetrahydrofolate as cofactor, induces hyperhomocysteinaemia, homocysteinuria, hypomethioninaemia and low methylfolate levels. Diagnosis usually occurs during infancy because of various neurological abnormalities. We report MTHFR deficiency diagnosed in an adult woman after a pulmonary embolism. Her adult sister, intellectually retarded, suffered from the same disease. Molecular analysis of the MTHFR gene exhibited four different mutations (two missense mutations, one exon skipping and C677T). The impact of these mutations was analysed through the biological abnormalities in the parents and children.
authors.affiliation: Service d'Hématologie Biologique, Hôpital Henri Mondor, Creteil, France.
authors.forename: Carole
authors.initials: C
authors.lastname: Tonetti
authors.forename: Marc
authors.initials: M
authors.lastname: Ruivard
authors.forename: Virginie
authors.initials: V
authors.lastname: Rieu
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Zittoun
authors.forename: Stephane
authors.initials: S
authors.lastname: Giraudier
mesh_terms: D000328:Adult; D003278:Contraceptives, Oral, Hormonal / Q000009:adverse effects; D004252:DNA Mutational Analysis; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use; D006801:Humans; D020138:Hyperhomocysteinemia / Q000188:drug therapy / Q000235:genetics; D008297:Male; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000172:deficiency*; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011655:Pulmonary Embolism / Q000188:drug therapy / Q000209:etiology*
chemical_list: D003278:Contraceptives, Oral, Hormonal; D005492:Folic Acid; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP)