SciELO - Scientific Electronic Library Online

vol.22 número10 índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados



Links relacionados

  • En proceso de indezaciónCitado por Google
  • No hay articulos similaresSimilares en SciELO
  • En proceso de indezaciónSimilares en Google


Anales de Medicina Interna

versión impresa ISSN 0212-7199


LUIS ROMAN, D. A. de  y  IZAOLA JAUREGUI, O.. Mapple syrup disease: a rare entity that we must know. Review of its dietetic management. An. Med. Interna (Madrid) [online]. 2005, vol.22, n.10, pp.493-497. ISSN 0212-7199.

Mapple syrup disease is secondary to a deficiency of deshidrogenase complex of a cetoacid of branched-chain. This disease has a recesive autosomic inheritance, with an incidence of 1/200.000 newborns, without differences between male and female. Due to clinical presentation and biochemical response to tiamin, these patients can be classified in five clinical entities: classic, intermediate, intermittent, positive response to tiamin and defficience of dihidrolipoil deshidrogenase (E3). In these patients, an increase of seric branched-chain aminoacids is detected, it could be detected by (cromathography) during neonatal period. Valine, isoleucine, and aloisoleucine are incresaed in serum, orine, and cephaloraquideum liquid by ionic changed cromathography, cromathography of high resolution or high voltage electrophoresis. Patients have two phases in this disease (acute phase and mantaining phase). Objectives in acute phase are based in three topics: to eliminate toxic metabolites, nutritional support and to get anabolism. Utilization of hemodyalisis/peritoneal dyalisis/blood exchange is one of the first treatments. Dietetic support is the second treatment, with a minimun energy intake and controlling blood levels of aminoacids. Modified dietetic formulas is a main device to treat these patients.

Palabras clave : Iodine; Deficiency; Pregnancy.

        · resumen en Español     · texto en Español     · Español ( pdf )


Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons