ArticleJournal of clinical research in pediatric endocrinology2013
Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.
Article in Journal of clinical research in pediatric endocrinology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 13 citations in OpenAlex.
- Precision treatment of beta-cell monogenic diabetes: a systematic review.Communications medicine · 2024Article
- Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.medRxiv : the preprint server for health sciences · 2023Article
- Stroke-like Episodes in Inherited Neurometabolic Disorders.Metabolites · 2022Review
- The Roles of Solute Carriers in Auditory Function.Frontiers in genetics · 2022Review
- Ion Transporters, Channelopathies, and Glucose Disorders.International journal of molecular sciences · 2019Review
- [Advances in genes mutation and pathophysiology of congenital sideroblastic anemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2016Article
- A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.International journal of pediatric endocrinology · 2015Article
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5 authors at 2 institutions in 1 country.
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Abstract
Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA. Three pediatric patients from a large consanguineous Iranian family with hyperglycemia, anemia, and hearing loss were clinically diagnosed with TRMA. In all three patients, TRMA was confirmed by direct sequencing of the SLC19A2 gene that revealed a novel missense homozygous mutation c.382 G>A (p.E128K). This mutation results in the substitution of glutamic acid to lysine at position 128 in exon 2 and was not detected in 200 control chromosomes. Thiamine therapy reversed the anemia and alleviated the hyperglycemia in all three patients. We recommend sequence analysis of the SLC19A2 gene in individuals with a clinical triad of diabetes mellitus, hearing loss, and anemia. The administration of thiamine ameliorates the megaloblastic anemia and the hyperglycemia in patients with TRMA.
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