title: Occlusive arterial disease as a form of presentation of homocystinuria.
abstract: Homocystinuria was first described in 1962. The disease affects several systems including the eyes, skeletal and nervous and vascular systems. We present the case of a 28-year old woman who presented with a severe occlusive arteriopathy. Screening for the most usual causes of arterial disease in young patients was negative, but a study of aminoaciduria and column chromatography confirmed the diagnosis of B6-responsive homocystinuria. Although it was necessary to amputate her left leg, the patient remains asymptomatic 16 months after B6 therapy was started.
authors.affiliation: Internal Medicine Service, Hospital Universitario de Badalona Germans Trias i Pujol, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Monreal
authors.forename: J M
authors.initials: JM
authors.lastname: Callejas
authors.forename: A
authors.initials: A
authors.lastname: Martorell
authors.forename: P
authors.initials: P
authors.lastname: Silveira
authors.forename: M
authors.initials: M
authors.lastname: Gallego
authors.forename: E
authors.initials: E
authors.lastname: Lafoz
authors.forename: A
authors.initials: A
authors.lastname: Casals
mesh_terms: D000328:Adult; D001157:Arterial Occlusive Diseases / Q000209:etiology*; D005260:Female; D006712:Homocystinuria / Q000150:complications*; D006801:Humans; D007383:Intermittent Claudication / Q000209:etiology; D007866:Leg / Q000098:blood supply*