Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report

BMC Endocrine Disorders

WeiRan Zhou¹  ZaiXin Peng²  ChangZhi Liu²  QuanE Liu² 

[1] Jinan Children’s Hospital (Qilu Children’s Hospital of Shandong University), Jinan, China;Xiangxi Tujia and Miao Autonomous Prefecture People’s Hospital, Jishou, China;

关键词: MRPS2;    Hypoglycemia;    Lactic acidosis;    Case report;   

DOI  :  10.1186/s12902-021-00924-1

来源: Springer

【 摘 要 】

BackgroundMitochondrial ribosomal protein S2 (MRPS2) gene mutation, which is related to severe hypoglycemia and lactic acidosis, is rarely reported globally.Case presentationWe report a case of a new MRPS2 gene mutation in a Chinese girl who presented with hypoglycemia and lactic acidosis. A homozygous C.412C > G variant that could cause complex oxidative phosphorylation deficiency and had not been reported before was identified. The clinical manifestations included recurrent vomiting, hypoglycemia, lactic acidosis, sensorineural hearing loss, and gall bladder calculi. Hypoglycemia and lactic acidosis improved after the administration of sugary liquid and supportive treatments.ConclusionsRecurrent hypoglycemia with lactic acidosis and sensorineural hearing loss should lead to suspicion of mitochondrial defects and the early refinement of genetic tests.

【 授权许可】

CC BY