遗传代谢病的诊断策略强调要重视急性代谢紊乱(低血糖、高血氨、酸中毒)、脑病、肝病及肌病、智力发育落后的表现及诱发因素,及时进行常规实验室检查、血氨基酸及酰基肉碱和尿有机酸分析等特异性检查,基因分析可帮助最终确定诊断。 The diagnosis of genetic metabolic diseases emphasizes the importance of acute metabolic disorders (hypoglycemia, hypernatremia, acidosis), encephalopathy, liver disease and myopathy, mental retardation and predisposing factors, timely routine laboratory tests, blood and amino acids and Specific examinations such as acylcarnitine and urine organic acid analysis can help in the final diagnosis.