Abstract

OLIVAR ROLDAN, J. et al. Clinical management of homocystinuria: case report and review of the literature. Nutr. Hosp. [online]. 2012, vol.27, n.6, pp.2133-2138. ISSN 1699-5198.  https://dx.doi.org/10.3305/nh.2012.27.6.6098.

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.

Keywords : Homocystinuria; Homocysteine.

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