遗传代谢病的血糖异常主要表现为低血糖,而低血糖危象是儿科重症监护室常见临床危象之一。碳水化合物代谢、氨基酸代谢和脂肪酸代谢异常都会引起低血糖表现。以糖原累积病最为常见。诊断检查中除血糖检查外,还要关注乳酸、血气分析电解质检查、生化等检查,有异常发现可进一步查血和(或)尿标本的串联质谱和气相色谱质谱检查,有诊断提示后还可查基因以确诊。 Hypoglycemia is the major cause of abnormal glucose metabolism in the inherited metabolic diseases, and hypoglycemia crisis is one of the common clinical crises in pediatric intensive care unit. Carbohydrate metabolism, amino acid metabolism and fatty acid metabolism can cause hypoglycemia. To glycogen storage disease is the most common. Diagnostic tests in addition to blood sugar, but also pay attention to lactic acid, blood gas analysis of electrolyte tests, biochemical and other tests, there are abnormal findings can be further blood and (or) urine samples by tandem mass spectrometry and gas chromatography mass spectrometry, with diagnosis tips Check gene to confirm.