Study on relation between acute encephalopathy in childhood and causative disorders of organic and fatty acid metabolism

急性脑病的各种原因，如高热或感染在儿童并不罕见。研究急性脑病与有机酸代谢紊乱的关系，建立生化分子诊断系统，对74例有机酸代谢紊乱进行诊断。从脂肪酸氧化损伤的角度对食物中毒急性脑病的发病机制进行了探讨，发现急性脑病是由于毒素暂时干扰脂肪酸氧化引起的。此外，我们开发了一种新的治疗脂肪酸氧化障碍的贝扎贝特，使用体外探针测定，使用培养细胞和串联质谱。

Acute encephalopathy of various causes like hyperpyrexia or infection is not rare in childhood. We studied the relation between acute encephalopathy and disorders of organic and fatty acid metabolism to develop the biochemical and molecular diagnostic system, and made a diagnosis on over 74 cases with disorders of organic and fatty acid metabolism.We investigated the mechanism of acute encephalopathy in case of food poisoning in view of fatty acid oxidation impairment, and found that the acute encephalopathy was caused by temporary disturbance of fatty acid oxidation by the toxin. Furthermore, we developed a new therapy with bezafibrate for fatty acid oxidation disorders, using the in vitro probe assay, using cultured cells and tandem mass spectrometry.