title: Methylenetetrahydrofolate reductase deficiency: prenatal diagnosis and family studies.
abstract: Prenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because of a severely affected first child in this family. The fetus at risk was found to be heterozygous as confirmed by the enzymatic activity assay performed several times after birth. In the father, MTHFR activity was normal in lymphocytes and decreased in fibroblasts, whereas in the asymptomatic mother, the activity was not detectable in fibroblasts and was very low in lymphocytes. The absence of any clinical symptoms in the mother despite a clear MTHFR deficiency and hyperhomocystinemia emphasizes the heterogeneity of this disease.
authors.affiliation: Laboratoire Central d'Hématologie, Hôpital Henri Mondor, Créteil, France.
authors.forename: J
authors.initials: J
authors.lastname: Marquet
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: J
authors.initials: J
authors.lastname: Zittoun
mesh_terms: D000649:Amniocentesis; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)