Seashore M R, Rinaldo P
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Semin Perinatol. 1993 Oct;17(5):318-29.
The inborn errors of metabolism must always be considered when a newborn presents with neurological distress, feeding difficulties, or a family history of neonatal or unexplained death. Clinical suspicion combined with prompt sophisticated laboratory evaluation is crucial if infants affected with this group of disorders are to be rescued.
当新生儿出现神经功能障碍、喂养困难或有新生儿期或不明原因死亡的家族史时,必须始终考虑先天性代谢缺陷。如果要挽救受这组疾病影响的婴儿,临床怀疑与迅速而精密的实验室评估相结合至关重要。