In unserem geografischen Kontext wird allen Neugeborenen der Fersentest angeboten Neugeborenen-Screening auf angeborene Krankheiten, die derzeit in der valencianischen Gemeinschaft 10 Krankheiten umfasst.

Die klinische Leitlinie zur Diagnose globaler Entwicklungsverzögerung und geistiger Behinderung der American Academy of Neurology und der American Academy of Pediatrics empfahl in ihrer Leitlinie aus dem Jahr 2006 nicht die systematische Durchführung von Stoffwechselstudien bei Kindern mit globaler Entwicklungsverzögerung, da deren diagnostische Ausbeute bei 1–5 % lag. In der Überprüfung von 2014 wurde diese Empfehlung jedoch geändert und die Stoffwechselstudie wurde bei Kindern ohne erkennbare Ursache einbezogen. Dabei folgte das von van Karnebeeck vorgeschlagene Protokoll, das auf zwei Schritten basiert:

1. Schritt: Zielloses Stoffwechselscreening.
  • Blut:
    • Laktat.
    • Ammonium.
    • Aminosäuren.
    • Folat.
    • Sialotransferrine.
    • Kupfer und Celluloplasmin.
    • Gesamtes Homocystein.
    • Acylcarnitine.
    • VLCFA.
  • Urin:
    • Organische Säuren.
    • Kreatin und GAA.
    • Glucosaminglycane.
    • Oligosaccharide.
2. Schritt: Gezieltes Stoffwechselscreening.

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?).

Im Internet Behandelbarer Ausweis puede buscarse información para orientar de forma más adecuada el estudio apropiado.

Im Internet Vademecum Metabólicum, existe un compendio de acceso libre sobre todos los errores congénitos del metabolismo.

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