Recovered Insulin Production after Thiamine Administration in Permanent Neonatal Diabetes Mellitus with a Novel SLC19A2 Mutation

Presentation Number: SUN 638
Date of Presentation: April 2nd, 2017

Chengjun Sun*1, Zhou Pei2, Miaoying Zhang2, Bijun Sun2, Lin Yang3, Zhuihui Zhao2, Ruoqian Cheng4 and Fei-hong Luo3
1Children's Hospital of Fudan University, Shanghai, China, 2Children's Hospital of Fudan University, 3Children’s Hospital of Fudan University, Shanghai, China, 4Children's Hospital of Fudan University, Shanghai, CHINA


Objectives Deficient SLC19A2 gene is one of the causes for permanent neonatal diabetes mellitus (PNDM) and it can be managed by thiamine treatment. We reported a patient with novel SLC19A2 mutation and summarized clinical characteristics of patients with SLC19A2 deficiency.

Subjects and Methods Genetics of the patient with PNDM were made by sequencing and quantitative PCR for mutations and genotype dosage. Clinical characteristics of the disease were summarized by systematical review of the literature.

Results The boy with PNDM has c.848G>A (p.W283X) homozygotic mutation in SLC19A2. His mutation is diploid genotype (c.848 A/A) which was inherited from his mother (c.848 G/A). After oral thiamine administration, the patient demonstrated a gradually increased level of fasting c-peptide and remarkably decreased insulin requirement. The database searching revealed that thiamine treatment was effective and improved diabetes in 63% of the patients with SLC19A2 deficiency.

Conclusions We identified a novel SLC19A2 mutation (c.848G>A; p.W283X) inherited as segmental uniparental disomy in our patient. Insulin insufficiency in PNDM caused by SLC19A2 deficiency can be corrected by additional thiamine supplementation. The differential diagnose of SLC19A2 deficiency should be included in children with PNDM to allow for early treatment.


Nothing to Disclose: CS, ZP, MZ, BS, LY, ZZ, RC, FHL