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遗传性代谢病：代谢性急症

Author
V Reid Sutton, MD
Section Editor
Sihoun Hahn, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS
Translators
李世蕊, 研究实习员

引言

先天性代谢障碍是由某种酶或其辅因子缺乏或异常引起，导致某种代谢产物蓄积或缺乏(表 1和表 2和表 3和表 4和表 5和表 6)。

遗传性代谢病(inborn errors of metabolism, IEM)的起病特征可能为急性或慢性。急性体征包括伴脱水或休克的发作性呕吐、嗜睡和昏迷、横纹肌溶解，以及轻度疾病、应激或长期禁食所致低血糖。代谢性疾病的慢性体征包括生长延迟/生长迟滞(failure to thriv, FTT)、肝肿大、心肌病、痉挛性双瘫和发育迟缓或倒退。

患有IEM儿童的最佳临床结局取决于对代谢性障碍体征和症状的识别、及时评估以及转诊至熟悉这些疾病评估和处理的中心[1]。诊断延迟可能导致急性代谢性失代偿、进行性神经损伤或死亡。

本专题将概述表现为急性代谢失代偿的疑似IEM儿童的表现、初始评估和处理。确诊具体疾病时通常需进行专业检查，应由遗传性或代谢性疾病专科医师会诊情况下得出。具体类型IEM的确诊将单独总结。IEM的分类和最常见的慢性表现，以及各种障碍也将单独讨论。 (参见“遗传性代谢病：分类”和“Inborn errors of metabolism: Epidemiology, pathogenesis, and clinical features”和“遗传性代谢病：如何明确特异性疾病”)

急性代谢失代偿的病因

IEM可以分为中间代谢障碍(典型IEM)、复合物分子生物合成和降解障碍，以及神经递质代谢障碍(表 1)。很多中间代谢障碍可表现为危及生命的急性疾病，特别是有机酸尿症、尿素循环障碍、枫糖尿病和脂肪酸氧化障碍。神经递质缺陷及相关障碍可表现为重度代谢性脑病。相反，复合物分子相关的障碍通常进展更缓慢，通常不会引起急性代谢失代偿。 (参见“遗传性代谢病：分类”，关于‘分类’一节)

                      

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Literature review current through: 2017-06 . | This topic last updated: 2015-09-16.
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