title: A rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport.
abstract: A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.
authors.affiliation: Combined Military Hospital Abbottabad, Pakistan. bugsgallian@yahoo.com
authors.forename: M A
authors.initials: MA
authors.lastname: Naeem
authors.forename: A
authors.initials: A
authors.lastname: Shabaz
authors.forename: A
authors.initials: A
authors.lastname: Shoaib
authors.forename: M
authors.initials: M
authors.lastname: Usman
mesh_terms: D000749:Anemia, Megaloblastic / Q000175:diagnosis / Q000188:drug therapy*; D003920:Diabetes Mellitus / Q000175:diagnosis; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D013831:Thiamine / Q000627:therapeutic use*
chemical_list: D013831:Thiamine