Debray F G, Weekers L, Dadoumont C, Grandjean C, Deberg M, Boemer F, Bours V
Unité Métabolique, Service de Génétique, CHU Liège, Belgique.
Centre Métabolique, CHC Liège, Belgique.
Rev Med Liege. 2020 May;75(5-6):420-425.
Inborn errors of metabolism (IEM) represent a vast group of orphan genetic disorders associated with enzyme deficiencies, substrates accumulation and products depletion. For several decades, the cornerstone of life-saving therapies in IEM was based on extreme manipulations of the nutritional intakes. Such outstanding dietary engineering is still relevant today, but new therapeutic avenues have emerged last years, based on better pathophysiological understanding and technological advances. In this paper, we summarize current and new therapeutic options in the field of IEM.
先天性代谢缺陷（IEM）是一大类罕见的遗传疾病，与酶缺乏、底物蓄积和产物耗竭有关。几十年来，IEM挽救生命疗法的基石是对营养摄入进行极端调整。这种卓越的饮食调控如今仍然适用，但基于对病理生理学的更深入理解和技术进步，近年来出现了新的治疗途径。在本文中，我们总结了IEM领域当前和新的治疗选择。
