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Tahir S, Leijssen LG, Sherif M, et al. A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia. Int J Pediatr Endocrinol. 2015;2015(1):6doi: 10.1186/s13633-015-0002-6.
Tahir, S., Leijssen, L. G., Sherif, M., Pereira, C., Morais, A., & Hussain, K. (2015). A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia. International journal of pediatric endocrinology, 2015(1), 6. https://doi.org/10.1186/s13633-015-0002-6
Tahir, Sophia, et al. "A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia." International journal of pediatric endocrinology vol. 2015,1 (2015): 6. doi: https://doi.org/10.1186/s13633-015-0002-6
Tahir S, Leijssen LG, Sherif M, Pereira C, Morais A, Hussain K. A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia. Int J Pediatr Endocrinol. 2015;2015(1):6. doi: 10.1186/s13633-015-0002-6. Epub 2015 Apr 15. PMID: 25878670; PMCID: PMC4397709.
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Int J Pediatr Endocrinol. 2015;2015(1):6. doi: 10.1186/s13633-015-0002-6. Epub 2015 Apr 15.

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.

International journal of pediatric endocrinology

Sophia Tahir, Lieve Gj Leijssen, Maha Sherif, Carla Pereira, Anabela Morais, Khalid Hussain

Affiliations

  1. Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH UK.
  2. Endocrinology Unit, Department of Paediatrics, Hospital de Santa Maria - CHLN, Lisbon, Portugal.
  3. Hematology Unit, Department of Paediatrics, Hospital de Santa Maria - CHLN, Lisbon, Portugal.
  4. Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, NHS Foundation Trust, WC1N 3JH London, United Kingdom.

PMID: 25878670 PMCID: PMC4397709 DOI: 10.1186/s13633-015-0002-6

Abstract

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading to a premature stop codon. The patient's diabetes and anaemia showed a good response to daily thiamine doses, reducing the daily insulin dose requirement. The report further indicates that TRMA is not only limited to consanguineous or ethnically isolated families, and should be considered as a differential diagnosis for patients presenting with suggestive clinical symptoms.

Keywords: Diabetes mellitus; Megaloblastic anaemia; SLC19A2 mutation; Sensorineural deafness; TRMA

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