В нашем географическом контексте всем новорожденным предлагается пройти пяточный тест или неонатальный скрининг на врожденные заболевания, который в настоящее время в Валенсийском сообществе включает 10 заболеваний.

Клинические рекомендации по диагностике глобальной задержки развития и умственной отсталости Американской академии неврологии и Американской академии педиатрии в своих рекомендациях 2006 года не рекомендовали систематическое проведение метаболических исследований у детей с глобальной задержкой развития, поскольку их диагностическая эффективность составляла 1-5%. Однако в обзоре 2014 года эта рекомендация была изменена, и метаболическое исследование было включено у детей без установленной причины в соответствии с протоколом, предложенным ван Карнебеком и состоящим из двух этапов:

1-й этап: Нецелевой метаболический скрининг.
  • Кровь:
    • Лактат.
    • Аммоний.
    • Аминокислоты.
    • Фолат.
    • Сиалотрансферрины.
    • Медь и целлюлоплазмин.
    • Общий гомоцистеин.
    • Ацилкарнитины.
    • VLCFA.
  • Моча:
    • Органические кислоты.
    • Креатин и ГАА.
    • Глюкозамингликаны.
    • Олигосахариды.
2-й этап: Целевой метаболический скрининг.

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?).

В сети Излечимый идентификатор puede buscarse información para orientar de forma más adecuada el estudio apropiado.

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

19955111 {19955111:5WUGPWQ8} 1 Ванкувер 50 по умолчанию 944 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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