[Phosphoglycerate dehydrogenase deficiency in a child]

X Y Zhang; C H Ding; S S Ren

doi:10.3760/cma.j.cn112140-20230219-00113

[Phosphoglycerate dehydrogenase deficiency in a child]

Zhonghua Er Ke Za Zhi. 2023 Jul 2;61(7):653-655. doi: 10.3760/cma.j.cn112140-20230219-00113.

[Article in Chinese]

Authors

X Y Zhang¹, C H Ding², S S Ren¹

Affiliations

¹ Department of Neurology, Baoding Hospital, Beijing Children's Hospital, Capital Medical University, Baoding 071000,China.
² Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

PMID: 37385812
DOI: 10.3760/cma.j.cn112140-20230219-00113

Abstract

患儿男，10月龄，因“点头拥抱样动作2个月”就诊。主要表现为智力及运动发育迟缓，婴儿痉挛症和小头畸形。全外显子基因测序提示PHGDH基因c.946-2A>G和c.766G>A，为复合杂合变异，诊断为磷酸甘油酸脱氢酶缺乏，该病临床症状缺乏特异性，按癫痫发作类型选择抗癫痫药物治疗可以部分有效控制发作。.

Publication types

Case Reports

MeSH terms

Carbohydrate Metabolism, Inborn Errors*
Child
Humans
Microcephaly*
Phosphoglycerate Dehydrogenase / deficiency
Psychomotor Disorders
Seizures

Supplementary concepts

Phosphoglycerate Dehydrogenase Deficiency