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

Autor:	Lieve Gj Leijssen, Maha Sherif, Khalid Hussain, Anabela Morais, Sophia Tahir, Carla Pereira
Jazyk:	angličtina
Rok vydání:	2015
Předmět:	Pediatrics medicine.medical_specialty Mutation TRMA biology business.industry Megaloblastic anaemia Case Report Sensorineural deafness medicine.disease_cause medicine.disease SLC19A2 mutation Exon Diabetes mellitus SLC19A2 biology.protein Medicine Thiamine Differential diagnosis business
Zdroj:	International Journal of Pediatric Endocrinology
ISSN:	1687-9856 1687-9848
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3d52e5edecdb77c13815761b6994fc http://europepmc.org/articles/PMC4397709 Zobrazit plný text záznamu Plný text ve formátu PDF