We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Clinical management of homocystinuria: case report and review of the literature].
- Authors
Olivar Roldán, J; Fernández Martínez, A; Díaz Guardiola, P; Martínez Sancho, E; Díaz Gómez, J; Gómez Candela, C
- 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.
- Publication
Nutrición Hospitalaria, 2012, Vol 27, p2133
- ISSN
0212-1611
- Publication type
Journal Article
- DOI
10.3305/nh.2012.27.6.6098