Hyperprolinemia type Ⅰ caused by PRODH gene variation: 2 cases report and literature review.

Author: Zhen Hua XIE ¹ ; Xian LI ¹ ; Meng Jun XIAO ¹ ; Jing LIU ¹ ; Qiang ZHANG ¹ ; Zhen Kun ZHANG ¹ ; Yan Ling YANG ² ; Hai Jun WANG ³ ; Yong Xing CHEN ⁴ ; Yao Dong ZHANG ¹ ; Dong Xiao LI ¹
Author Information

1. Henan Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.
2. Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
3. Department of Emergency, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.
4. Department of Endocrinology, Genetics and metabolism, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.
Publication Type:Journal Article
MeSH: Humans; Amino Acid Metabolism, Inborn Errors/genetics*; Mutation, Missense; Proline Oxidase/genetics*
From: Chinese Journal of Pediatrics 2023;61(10):935-937
CountryChina
Language:Chinese