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

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Abstract

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.

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Journal ID (iso-abbrev): J Diabetes

Title: Journal of diabetes

Publisher: Wiley

ISSN (Electronic): 1753-0407

ISSN (Print): 1753-0407

Publication date (Electronic): Jan 2018

Volume: 10

Issue: 1

Affiliations

[1 ] Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.

[2 ] The Molecular Genetic Diagnosis Center, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.

Article

DOI: 10.1111/1753-0407.12556

PubMed ID: 28371426

SO-VID: b36d52b2-d238-4277-add5-a2013f7b57d4

History

Keywords: neonatal diabetes,permanent neonatal diabetes mellitus,solute carrier family 19 member 2 (SLC19A2),新生儿糖尿病,永久性新生儿糖尿病,溶质运载蛋白家族19成员2基因

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Keywords: neonatal diabetes, permanent neonatal diabetes mellitus, solute carrier family 19 member 2 (SLC19A2), 新生儿糖尿病, 永久性新生儿糖尿病, 溶质运载蛋白家族19成员2基因

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

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