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Vol. 45. Issue 167.
Pages 185-189 (July - September 2010)
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Vol. 45. Issue 167.
Pages 185-189 (July - September 2010)
Errores congénitos del metabolismo y práctica deportiva
Inborn errors of metabolism and sports
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Mercedes Serranoa, M. Antònia Vilasecab, Jaume Campistola,
Corresponding author
campistol@hsjdbcn.org

Autor para correspondencia. campistol@hsjdbcn.org
a Servei de Neurologia, Unitat Malalties Metabòliques, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, España
b Servei de Bioquímica, Unitat Malalties Metabòliques, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, España
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Los errores congénitos del metabolismo son enfermedades poco frecuentes y muy diferentes entre sí. Muchas de ellas (la mayoría) se presentan en la edad pediátrica y repercuten en diversas esferas de la vida del niño dando lugar, en muchos casos, a situaciones de desigualdad frente a los otros niños. Recomendar la práctica deportiva (práctica deportiva adaptada según el caso), tal y como se hace con el resto de los niños, es importante no sólo desde el punto de vista físico y psíquico, sino también para su desarrollo personal y social. Acercar el deporte a este grupo de pacientes constituye una maniobra más para su integración con el resto de los niños. No obstante, no es fácil realizar recomendaciones generales para un grupo de pacientes tan heterogéneo. En este trabajo intentamos realizar unas recomendaciones y observaciones particulares para algunos de los errores congénitos del metabolismo de mayor frecuencia.

Palabras clave:
Errores congénitos del metabolismo
Enfermedades raras
Discapacidad
Actividad física
Deporte adaptado

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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