TITLE

TRMA syndrome (thiamine-responsive megaloblastic anaemia): An example of rare monogenic diabetes: is thiamine a magic pill for anaemia and diabetes?

AUTHOR(S)
olety, Santhosh; Vellakampadi, Deepesh
PUB. DATE
December 2016
SOURCE
International Journal of Diabetes in Developing Countries;Dec2016, Vol. 36 Issue 4, p389
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article presents case study of a 16-month-old child who was presented with diabetic ketoacidosis, was reported to be with a genetically confirmed thiamine-responsive megaloblastic anaemia (TRMA) syndrome. It was detected with sensorineural deafness and mutation of homozygous pathogenic variant in exon 2 of the SLC19A2 gene due to child's parents being from consanguineous families.
ACCESSION #
120511412

 

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