title: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.
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.
authors: Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH UK.
authors: Sophia
authors: S
authors: Tahir
authors: Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH UK.
authors: Lieve Gj
authors: LG
authors: Leijssen
authors: Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH UK.
authors: Maha
authors: M
authors: Sherif
authors: Endocrinology Unit, Department of Paediatrics, Hospital de Santa Maria - CHLN, Lisbon, Portugal.
authors: Carla
authors: C
authors: Pereira
authors: Hematology Unit, Department of Paediatrics, Hospital de Santa Maria - CHLN, Lisbon, Portugal.
authors: Anabela
authors: A
authors: Morais
authors: Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH UK.|Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, NHS Foundation Trust, WC1N 3JH London, United Kingdom.
authors: Khalid
authors: K
authors: Hussain
keywords: Diabetes mellitus; Megaloblastic anaemia; SLC19A2 mutation; Sensorineural deafness; TRMA