%0 Journal Article
%T Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome
%A Agnieszka Zmys£¿owska
%A Wojciech M£¿ynarski
%J Pediatric Endocrinology, Diabetes and Metabolism
%D 2012
%I 
%X Diabetes mellitus may occur in children and adolescents as an independent disease, most frequently as autoimmune type 1 diabetes, or can coexist with other abnormalities. If diabetes coincides with other disorders occurring sequentially, a syndromic form of monogenic diabetes should be suspected. Thiamine-responsive megaloblastic anaemia (TRMA) syndrome is an example of a rare form of monogenic diabetes coexisting with anaemia and deafness. In the paper, we discuss clinical features and treatment of TRMA syndrome ¨C a unique syndromic form of vitamin-dependent monogenic diabetes. The review might be useful in establishing a prompt diagnosis and initiating optimal management in children and adolescents with the disease.
%K monogenic diabetes
%K anaemia
%K deafnes
%K 
%U http://cornetis.pl/pliki/ED/2012/1/ED_2012_1_37.pdf