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.

Однако каким пациентам также может быть рекомендовано пройти метаболическое исследование на основании наличия определенных данных из истории болезни или исследовательских характеристик, которые увеличивают вероятность метаболопатии (Когда можно заподозрить нарушение обмена веществ?).

В сети Излечимый идентификатор Можно запросить информацию для более правильного руководства соответствующим исследованием.

В сети Вадемекум метаболикум, в свободном доступе есть сборник всех врожденных нарушений метаболизма.

19955111 {19955111:5WUGPWQ8} 1 Ванкувер 50 по умолчанию 944 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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Мёшлер Дж.Б., Шевелл М., Мёшлер Дж.Б., Шевелл М., Саул Р.А., Чен Э. и др. Комплексная оценка ребенка с умственной отсталостью или глобальной задержкой развития. Педиатрия [Интернет]. 1 сентября 2014 г. [цитировано 29 июня 2015 г.];134(3):e903–18. Доступно: http://pediatrics.aappublications.org/content/134/3/e903