[Glucose phosphate isomerase gene mutation causing severe hemolytic anemia with residual neurological symptoms]

Zhonghua Er Ke Za Zhi. 2019 Feb 2;57(2):153-155. doi: 10.3760/cma.j.issn.0578-1310.2019.02.019.

[Article in Chinese]

Authors

K Huang¹, R H Wu¹, J F Yao¹, W H Zhang², B L Fang³, J Y Ma¹, Z Li³, Y L Pang³, J Mu⁴

Affiliations

¹ Hematology Oncology Center, Beijing Children's Hospital, Beijing 100045, China.
² Department of Neurology Medicine, Beijing Children's Hospital, Beijing 100045, China.
³ Department of Critical Care Medicine, Beijing Children's Hospital, Beijing 100045, China.
⁴ Department of Integrated Branch Medicine, Beijing Children's Hospital, Beijing 100045, China.

PMID: 30695894
DOI: 10.3760/cma.j.issn.0578-1310.2019.02.019

Abstract

1例主诉为间断皮肤黄染5年患儿就诊于北京儿童医院血液科，经过相关化验及基因测序检查，最终诊断为遗传性葡萄糖磷酸异构酶缺乏症。葡萄糖磷酸异构酶缺乏症临床罕见。.