Dans notre contexte géographique, tous les nouveau-nés se voient proposer le test du talon ou dépistage néonatal des maladies congénitales, qui comprend actuellement 10 maladies dans la Communauté valencienne.

Les lignes directrices cliniques pour le diagnostic du retard global de développement et de la déficience intellectuelle de l'American Academy of Neurology et de l'American Academy of Pediatrics ne recommandaient pas dans leur ligne directrice de 2006 la réalisation systématique d'études métaboliques chez les enfants présentant un retard global de développement, puisque leur rendement diagnostique était de 1 à 5 %. Cependant, dans la revue de 2014, cette recommandation a été modifiée et l'étude métabolique a été incluse chez les enfants sans cause identifiable, selon le protocole proposé par van Karnebeeck, basé sur 2 étapes :

1ère étape : Screening métabolique non ciblé.
  • Sang:
    • Lactate.
    • Ammonium.
    • Acides aminés.
    • Folate.
    • Sialotransferrines.
    • Cuivre et celluloplasmine.
    • Homocystéine totale.
    • Acylcarnitines.
    • VLCFA.
  • Urine:
    • Acides organiques.
    • Créatine et GAA.
    • Glucosamineglycanes.
    • Oligosaccharides.
2ème étape : Screening métabolique ciblé.

No obstante, también puede orientarse a qué pacientes realizar un estudio metabólico a partir de la presencia de determinados datos de la historia clínica o características exploratorias que incrementan la probabilidad de una metabolopatía (¿cuando sospechar una metabolopatía?).

Sur le Web Treatable ID puede buscarse información para orientar de forma más adecuada el estudio apropiado.

Sur le Web Vademecum Metabólicum, existe un compendio de acceso libre sobre todos los errores congénitos del metabolismo.

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1.
Moeschler JB, Shevell M, Moeschler JB, Shevell M, Saul RA, Chen E, et al. Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays. Pediatrics [Internet]. 2014 Sept 1 [cited 2015 June 29];134(3):e903–18. Available from: http://pediatrics.aappublications.org/content/134/3/e903