Zhao Yunfei, Zhu Shasha, Huang Xinwen
Department of Genetics and Metabolism, Children's Hospital Affiliated to Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):99-102. doi: 10.3760/cma.j.cn511374-20200616-00443.
Isovaleric acidemia is a type of organic acidemia for which the earliest definite diagnosis was attained. It features an autosomal recessive inheritance, with the onset of age varying from newborn to adulthood. The clinical manifestations are complex and variable, which include feeding difficulty, vomiting, lethargy, coma, metabolic acidosis, sweaty feet odor and mental retardation. The mortality and mobility rates of isovaleric acidemia are quite high, and early diagnosis and rational treatment can significantly improve the prognosis. This article has provided a summary for the current understanding and research progress on isovaleric acidemia.
异戊酸血症是最早得以明确诊断的一种有机酸血症。其具有常染色体隐性遗传特征，发病年龄从新生儿到成年不等。临床表现复杂多样，包括喂养困难、呕吐、嗜睡、昏迷、代谢性酸中毒、足部汗臭味以及智力发育迟缓。异戊酸血症的死亡率和致残率相当高，早期诊断和合理治疗可显著改善预后。本文对目前关于异戊酸血症的认识和研究进展进行了综述。
