Current understanding and progress of research on isovaleric acidemia.
10.3760/cma.j.cn511374-20200616-00443
- VernacularTitle:异戊酸血症的研究进展
- Author:
Yunfei ZHAO
1
;
Shasha ZHU
;
Xinwen HUANG
Author Information
1. 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. 630522@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Adult;
Amino Acid Metabolism, Inborn Errors/genetics*;
Humans;
Infant, Newborn;
Isovaleryl-CoA Dehydrogenase/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(1):99-102
- CountryChina
- Language:Chinese
-
Abstract:
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.
