Journal Information
Vol. 45. Issue 167.
Pages 185-189 (July - September 2010)
Vol. 45. Issue 167.
Pages 185-189 (July - September 2010)
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Errors congènits del metabolisme i pràctica esportiva
Inborn errors of metabolism and sports
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Mercedes Serranoa, M. Antònia Vilasecab, Jaume Campistola
a Servei de Neurologia, Unitat de Malalties Metabòliques, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Espanya
b Servei de Bioquímica, Unitat de Malalties Metabòliques, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Espanya
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Els errors congènits del metabolisme són malalties poc freqüents i molt diferents entre si. Moltes (la majoria) es presenten a l??edat pediàtrica i repercuteixen en diverses esferes de la vida del nen, i en molts casos originen situacions de desigualtat respecte dels altres nens. Recomanar la pràctica esportiva (pràctica esportiva adaptada segons el cas), tal com es fa amb la resta dels nens, és important no sols des del punt de vista físic i psíquic, sinó també per al seu desenvolupament personal i social. Acostar l??esport a aquest grup de pacients constitueix una maniobra més per integrar-los amb la resta de nens. Amb tot, no és fàcil donar recomanacions generals per a un grup de pacients tan heterogeni. En aquest treball intentem proposar unes recomanacions i observacions particulars per a alguns dels errors congènits del metabolisme més freqüents.
Palabras clave:
Errors congènits del metabolisme
Malalties rares
Discapacitat
Activitat física
Esport adaptat

Inborn errors of metabolism are a rare and very diverse group of disorders. The majority of them present at paediatric age and have an effect on the child in many spheres of life, often leading to inequalities with other children. To recommend practicing a sport (adapted depending on the condition), like the rest of the children, it is very important, not only from a physical and psychological point of view, but also for their personal and social development. To bring sport nearer to this group of patients is one more manoeuvre for their integration with the other children. However, it is not easy to make general recommendations for such a heterogeneous group of patients. In this article we attempt to make particular recommendations and observations for some of the more common inborn errors of metabolism.

Keywords:
Inborn errors of metabolism
Rare diseases
Disabled
Physical activity
Adapted sport
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Apunts Medicina de l'Esport (English Edition)

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