目的探讨新生儿期起病的遗传代谢病的临床特点,非特异性症状,寻求早期诊断依据。方法对疑似病例及早筛查并结合病史、家族史、临床表现、生化和分子生物学检测、组织学和影像学检查等综合分析做出诊断。结果早期诊断是防止误诊进行及时处理,挽救生命、避免或减少严重并发症及神经系统伤残的关键。 Objective To investigate the clinical features, nonspecific symptoms of the inherited metabolic disease in the neonatal period and seek the basis of early diagnosis. Methods Early diagnosis of suspected cases combined with history, family history, clinical manifestations, biochemical and molecular biology tests, histological and imaging studies to make a comprehensive diagnosis. Results Early diagnosis is the key to preventing misdiagnosis from being treated in time, saving lives, avoiding or reducing serious complications and nervous system disability.