Hyperhomocysteinemia--case report.
The authors present the case of a 25-year-old female patient, white, with mental retardation and proptosis, and a history of repeated cerebrovascular events. During investigation elevated levels of homocysteinemia and homocystinuria were demonstrated. The authors present a review of related literature.
Fonseca
Nuno
N
Serviço de Cardiologia do Hospital de São Bernardo, Setúbal.
Vidal
Nathalie
N
Santos
José
J
Brito
Ana Paula
AP
Bernardino
Leonel
L
Silvestre
Isabel
I
Inês
Lopes
L
D000328:Adult; D002561:Cerebrovascular Disorders / Q000175:diagnosis; D005094:Exophthalmos / Q000175:diagnosis; D005260:Female; D006710:Homocysteine / Q000378:metabolism; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D020138:Hyperhomocysteinemia / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis
D006710:Homocysteine