En nuestro contexto geográfico, se ofrece a todos los recién nacidos la realización de la prueba del talón o cribado neonatal de enfermedades congénitas, que en el momento actual en la Comunidad Valenciana incluye 10 enfermedades.
La guía clínica de diagnóstico del retraso global del desarrollo y discapacidad intelectual de la Academia Americana de Neurología y de la Academia Americana de Pediatría, no recomendaban en su guía de 2006 la realización de forma sistemática de estudios metabólicos en los niños con retraso global del desarrollo, ya que su rentabilidad diagnóstica era del 1-5%. No obstante, en la revisión de 2014 se cambió dicha recomendación, y se incluyó el estudio metabólico en aquellos niños sin causa identificable, siguiendo el protocolo propuesto por van Karnebeeck, basado en 2 escalones:
1º escalón: Screening metabólico no dirigido.
- Sangre:
- Lactato.
- Amonio.
- Aminoácidos.
- Folato.
- Sialotransferrinas.
- Cobre y celuloplasmina.
- Homocisteína total.
- Acilcarnitinas.
- VLCFA.
- Orina:
- Acidos orgánicos.
- Creatina y GAA.
- Glucosaminglicanos.
- Oligosacáridos.
2º escalón: Screening metabólico dirigido.
- LCR:
- Neurotransmisores.
- Aminoácidos.
- Sangre:
- Orina:
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?).
En la web Treatable ID puede buscarse información para orientar de forma más adecuada el estudio apropiado.
En la 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 Sep 1 [cited 2015 Jun 29];134(3):e903–18. Available from:
http://pediatrics.aappublications.org/content/134/3/e903
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