Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.
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.
Visy
J M
JM
Service de neurologie Hopital lariboisiére, Paris, France.
Le Coz
P
P
Chadefaux
B
B
Fressinaud
C
C
Woimant
F
F
Marquet
J
J
Zittoun
J
J
Visy
J
J
Vallat
J M
JM
Haguenau
M
M
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
D006710:Homocysteine; D010088:Oxidoreductases; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042965:Methylenetetrahydrofolate Reductase (NADPH2)