Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.
Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Division of Neonatology, Nationwide Children's Hospital, Columbus, OH; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Semin Pediatr Neurol. 2022 Jul;42:100972. doi: 10.1016/j.spen.2022.100972. Epub 2022 Apr 18.
Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy and seizures. Advancements in our understanding of inborn errors of metabolism are leading to an increasing number of therapeutic options. Many of these treatments can improve long-term neurodevelopment and seizure control. However, the treatments are frequently condition-specific. A high index of suspicion is required for prompt identification and treatment. When suspected, simultaneous metabolic and molecular testing are recommended along with concurrent treatment.
神经遗传和代谢性疾病常于新生儿期起病,表现类似其他疾病,最常见的是新生儿脑病和癫痫。我们对先天性代谢缺陷的认识不断进步,也带来了越来越多的治疗选择。许多治疗方法可以改善长期神经发育和癫痫控制。然而,这些治疗方法通常是针对特定疾病的。因此,需要高度怀疑,以便及时识别和治疗。怀疑时,建议同时进行代谢和分子检测,并进行同步治疗。