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

Z H Xie; X Li; M J Xiao; J Liu; Q Zhang; Z K Zhang; Y L Yang; H J Wang; Y X Chen; Y D Zhang; D X Li

doi:10.3760/cma.j.cn112140-20230314-00178

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

Zhonghua Er Ke Za Zhi. 2023 Oct 2;61(10):935-937. doi: 10.3760/cma.j.cn112140-20230314-00178.

[Article in Chinese]

Authors

Z H Xie¹, X Li¹, M J Xiao¹, J Liu¹, Q Zhang¹, Z K Zhang¹, Y L Yang², H J Wang³, Y X Chen⁴, Y D Zhang¹, D X Li¹

Affiliations

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.

PMID: 37803864
DOI: 10.3760/cma.j.cn112140-20230314-00178

Abstract

2例男性高脯氨酸血症Ⅰ型患儿，起病年龄分别为1日龄和3月龄。例1主要表现为呼吸困难、先天性心脏病、低钙血症等；例2主要表现为斜颈、语言障碍、学习技能发育障碍。2例患儿血串联质谱检测均显示血脯氨酸浓度显著增高，基因检测结果显示例1 PRODH基因存在c.1691G>A（p. Arg564His）和疑似6~7号外显子杂合缺失，实时定量PCR检测证实6号外显子杂合缺失；例2 PRODH基因存在c.1322T>C（p.Leu441Pro）纯合变异。血串联质谱检测结合基因检测可对疾病进行明确诊断。.

Publication types

Review
Case Reports

MeSH terms

Amino Acid Metabolism, Inborn Errors* / genetics
Humans
Mutation, Missense
Proline Oxidase / genetics

Substances

PRODH protein, human
Proline Oxidase