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Article

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

BMC endocrine disorders - 6 Jan 2022

Liu ChangZhi, Zhou WeiRan, Liu QuanE, Peng ZaiXin

Abstract excerpt

BACKGROUND: Mitochondrial ribosomal protein S2 (MRPS2) gene mutation, which is related to severe hypoglycemia and lactic acidosis, is rarely reported globally. CASE PRESENTATION: We 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...

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Identifiers

PMID: 34991560
DOI: 10.1186/s12902-021-00924-1
PMCID: PMC8734237

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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