在我们的地理环境中，所有新生儿都会接受足跟测试或 新生儿先天性疾病筛查，目前在巴伦西亚社区包括 10 种疾病。

美国神经病学会和美国儿科学会的全面性发育迟缓和智力障碍诊断临床指南在其2006年指南中并未推荐对全面性发育迟缓儿童进行系统性的代谢研究，因为其诊断率仅为1-5%。然而，在 2014 年的审查中，这一建议发生了变化，代谢研究纳入了那些没有可识别原因的儿童，遵循 van Karnebeeck 提出的方案，基于以下两个步骤：

第一步：非靶向代谢筛查。
  • 血：
    • 乳酸。
    • 铵。
    • 氨基酸。
    • 叶酸。
    • 唾液酸转铁蛋白。
    • 铜和细胞蓝蛋白。
    • 总同型半胱氨酸。
    • 酰基肉碱。
    • 极长链脂肪酸。
  • 尿：
    • 有机酸。
    • 肌酸和 GAA。
    • 葡糖胺聚糖。
    • 低聚糖。
第二步：靶向代谢筛选。
  • 脑脊液：
    • 神经递质。
    • 氨基酸。
  • 血：
  • 尿：
    • 嘌呤和嘧啶。

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?).

在网络上 Treatable ID puede buscarse información para orientar de forma más adecuada el estudio apropiado.

在网络上 Vademecum Metabólicum, existe un compendio de acceso libre sobre todos los errores congénitos del metabolismo.

19955111 {19955111:5WUGPWQ8} 1 温哥华 50 默认 944 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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