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Herein we report on a male patient with a novel <jats:italic>SLC19A2<\/jats:italic> mutation and summarize the clinical characteristics of patients with <jats:italic>SLC19A2<\/jats:italic> deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The genetic diagnosis of the patient with <jats:styled-content style=\"fixed-case\">PNDM<\/jats:styled-content> was made by sequencing and quantitative polymerase chain reaction. The clinical characteristics of <jats:styled-content style=\"fixed-case\">PNDM<\/jats:styled-content> were summarized on the basis of a systematic review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient with <jats:styled-content style=\"fixed-case\">PNDM<\/jats:styled-content> had c.848G&gt;A (p.W283X) homozygous mutation in <jats:italic>SLC19A2<\/jats:italic>. His father had a wild\u2010type <jats:italic>SLC19A2<\/jats:italic> (c.848G) and his mother was c.848G\/A heterozygous. The patient and his father both had a diploid genotype (c.848A\/A and c.848G\/G). After oral thiamine administration, the patient's fasting C\u2010peptide levels increased gradually, and there was a marked decrease in insulin requirements. A search of the literature revealed that thiamine treatment was effective and improved diabetes in 63% of patients with <jats:italic>SLC19A2<\/jats:italic> deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A novel <jats:italic>SLC19A2<\/jats:italic> mutation (c.848G&gt;A; p.W283X) was identified, which was most likely inherited as segmental uniparental isodisomy. Insulin insufficiency in <jats:styled-content style=\"fixed-case\">PNDM<\/jats:styled-content> caused by <jats:italic>SLC19A2<\/jats:italic> deficiency can be corrected by thiamine supplementation. The differential diagnosis of <jats:italic>SLC19A2<\/jats:italic> deficiency should be considered in children with <jats:styled-content style=\"fixed-case\">PNDM<\/jats:styled-content> accompanied by anemia or hearing defects to allow for early treatment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1753-0407.12556","type":"journal-article","created":{"date-parts":[[2017,3,30]],"date-time":"2017-03-30T07:22:22Z","timestamp":1490858542000},"page":"50-58","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (<i>SLC19A2<\/i>) mutation"],"prefix":"10.1111","volume":"10","author":[{"given":"Chengjun","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases Children's Hospital of Fudan University  Shanghai 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