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Article

Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.

Journal of diabetes - 1 Jan 2018

Sun Chengjun, Pei Zhou, Zhang Miaoying, Sun Bijun, Yang Lin, Zhao Zhuhui, Cheng Ruoqian, Luo Feihong

Abstract excerpt

BACKGROUND: Solute carrier family 19 member 2 (SLC19A2) gene deficiency is one of the causes of permanent neonatal diabetes mellitus (PNDM) and can be effectively managed by thiamine supplementation. Herein we report on a male patient with a novel SLC19A2 mutation and summarize the clinical characteristics of patients with SLC19A2 deficiency. METHODS: The genetic diagnosis of the patient with PNDM was made by...

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PMID: 28371426
DOI: 10.1111/1753-0407.12556

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

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