Sugiyama Yohei, Murayama Kei
Department of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan.
Department of Pediatrics, Faculty of Medicine, Juntendo University, Tokyo 113-8431, Japan.
J Clin Med. 2023 May 31;12(11):3797. doi: 10.3390/jcm12113797.
Acute encephalopathy is a critical medical condition that typically affects previously healthy children and young adults and often results in death or severe neurological sequelae. Inherited metabolic diseases that can cause acute encephalopathy include urea cycle disorders, amino acid metabolism disorders, organic acid metabolism disorders, fatty acid metabolism disorders, mutations in the thiamine-transporter gene, and mitochondrial diseases. Although each inherited metabolic disease is rare, its overall incidence is reported as 1 in 800-2500 patients. This narrative review presents the common inherited metabolic diseases that cause acute encephalopathy. Since diagnosing inherited metabolic diseases requires specific testing, early metabolic/metanolic screening tests are required when an inherited metabolic disease is suspected. We also describe the symptoms and history associated with suspected inherited metabolic diseases, the various tests that should be conducted in case of suspicion, and treatment according to the disease group. Recent advancements made in the understanding of some of the inherited metabolic diseases that cause acute encephalopathy are also highlighted. Acute encephalopathy due to inherited metabolic diseases can have numerous different causes, and recognition of the possibility of an inherited metabolic disease as early as possible, obtaining appropriate specimens, and proceeding with testing and treatment in parallel are crucial in the management of these diseases.
急性脑病是一种严重的医学病症，通常影响既往健康的儿童和年轻人，常导致死亡或严重的神经后遗症。可导致急性脑病的遗传性代谢疾病包括尿素循环障碍、氨基酸代谢障碍、有机酸代谢障碍、脂肪酸代谢障碍、硫胺素转运蛋白基因突变以及线粒体疾病。尽管每种遗传性代谢疾病都很罕见，但其总体发病率据报道为每800 - 2500例患者中有1例。这篇叙述性综述介绍了导致急性脑病的常见遗传性代谢疾病。由于诊断遗传性代谢疾病需要特定检测，因此当怀疑患有遗传性代谢疾病时，需要进行早期代谢/代谢组学筛查测试。我们还描述了与疑似遗传性代谢疾病相关的症状和病史、怀疑时应进行的各种检测以及根据疾病分组的治疗方法。还强调了在对一些导致急性脑病的遗传性代谢疾病的认识方面取得的最新进展。由遗传性代谢疾病引起的急性脑病可能有许多不同病因，尽早认识到遗传性代谢疾病的可能性、获取合适标本并同时进行检测和治疗，对于这些疾病的管理至关重要。
