Format

Send to

Choose Destination
See comment in PubMed Commons below
Nutr Hosp. 2012 Nov-Dec;27(6):2133-8. doi: 10.3305/nh.2012.27.6.6098.

[Clinical management of homocystinuria: case report and review of the literature].

[Article in Spanish]

Author information

1
Servicio de Endocrinología y Nutrición, Hospital Infanta Sofía, San Sebastián de los Reyes, Madrid, España. juaniolivar@yahoo.es

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.

PMID:
23588468
DOI:
10.3305/nh.2012.27.6.6098
[Indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Scientific Electronic Library Online
    Loading ...
    Support Center