title: [Clinical management of homocystinuria: case report and review of the literature].
abstract: Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder.
authors.affiliation: Servicio de Endocrinología y Nutrición, Hospital Infanta Sofía, San Sebastián de los Reyes, Madrid, España. juaniolivar@yahoo.es
authors.forename: J
authors.initials: J
authors.lastname: Olivar Roldán
authors.forename: A
authors.initials: A
authors.lastname: Fernández Martínez
authors.forename: P
authors.initials: P
authors.lastname: Díaz Guardiola
authors.forename: E
authors.initials: E
authors.lastname: Martínez Sancho
authors.forename: J
authors.initials: J
authors.lastname: Díaz Gómez
authors.forename: C
authors.initials: C
authors.lastname: Gómez Candela
mesh_terms: D000328:Adult; D004032:Diet; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000097:blood / Q000178:diet therapy*; D006801:Humans; D008297:Male; D008715:Methionine / Q000378:metabolism; D013762:Tetrahydrofolate Dehydrogenase / Q000378:metabolism; D055815:Young Adult
chemical_list: D006710:Homocysteine; D008715:Methionine; D013762:Tetrahydrofolate Dehydrogenase