title: Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.
abstract: Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency and had severe recurrent strokes in adult life. Two of the patients died 1 year after clinical onset.
authors.affiliation: Service de neurologie Hopital lariboisiére, Paris, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Visy
authors.forename: P
authors.initials: P
authors.lastname: Le Coz
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux
authors.forename: C
authors.initials: C
authors.lastname: Fressinaud
authors.forename: F
authors.initials: F
authors.lastname: Woimant
authors.forename: J
authors.initials: J
authors.lastname: Marquet
authors.forename: J
authors.initials: J
authors.lastname: Zittoun
authors.forename: J
authors.initials: J
authors.lastname: Visy
authors.forename: J M
authors.initials: JM
authors.lastname: Vallat
authors.forename: M
authors.initials: M
authors.lastname: Haguenau
mesh_terms: D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D000328:Adult; D002561:Cerebrovascular Disorders / Q000209:etiology* / Q000235:genetics; D005260:Female; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000097:blood / Q000209:etiology* / Q000652:urine; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D010088:Oxidoreductases / Q000172:deficiency* / Q000378:metabolism; D014018:Tissue Distribution
chemical_list: D006710:Homocysteine; D010088:Oxidoreductases; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042965:Methylenetetrahydrofolate Reductase (NADPH2)