Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families

J. Ricketts, Christopher; A.L. Minton, Jayne; Samuel, Jacob; Ariyawansa, Indra; K Wales, J; F. M. Lo, Ivan; Barrett, Timothy

doi:10.1080/08035250500323715

Public

Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families

Published in Acta Paediatrica • Nov 8, 2005

Authors:

Christopher J. Ricketts

Jayne A.L. Minton

Jacob Samuel

Abstract

AIM: Thiamine-responsive megaloblastic anaemia syndrome (TRMA) is the association of diabetes mellitus, anaemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. This is a unique monogenic form of vitamin-dependent diabetes for which there is limited long-term data....

Subject

Medicine

Thiamine

Diabetes mellitus

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