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

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

Content Provider	PubMed Central
Author	Tahir, Sophia Leijssen, Lieve Gj Sherif, Maha Pereira, Carla Morais, Anabela Hussain, Khalid
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.
Related Links	http://dx.doi.org/10.1186/s13633-015-0002-6
Starting Page	6
File Format	PDF
ISSN	16879856
e-ISSN	16879856
Journal	International Journal of Pediatric Endocrinology
Issue Number	1
Volume Number	2015
Language	English
Publisher	BioMed Central
Publisher Date	2015-01-01
Access Restriction	Open
Rights Holder	BioMed Central
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article

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