Ontology highlight
ABSTRACT:
SUBMITTER: Tahir S
PROVIDER: S-EPMC4397709 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Tahir Sophia S Leijssen Lieve Gj LG Sherif Maha M Pereira Carla C Morais Anabela A Hussain Khalid K
International journal of pediatric endocrinology 20150415 1
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 ...[more]