Lu H Lu H Vaucher J Tran C Vollenweider P Castioni J 2019 Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. This transporter is essentially present in hematopoietic stem cells, pancreatic beta cells and inner ear cells, explaining the clinical manifestations of the disease. Based on a multidisciplinary approach, treatment resides on lifelong thiamine oral supplementation at pharmacological doses, which reverses anemia and may delay development of diabetes. However, thiamine supplementation does not alleviate already existing hearing defects. https://sonar.ch/global/documents/78995 eng info:eu-repo/semantics/altIdentifier/doi/10.1016/j.revmed.2018.06.005 info:eu-repo/semantics/altIdentifier/pmid/30031565 La Revue de medecine interne. - 2019 Analyse de mutations d’ADN Anémie mégaloblastique Carence en thiamine DNA mutational analysis Diabetes mellitus Diabète Megaloblastic anemia Sensorineural hearing loss Surdité neurosensorielle Thiamine deficiency Anemia, Megaloblastic Diabetes Mellitus Diagnosis, Differential Dietary Supplements Hearing Loss, Sensorineural Humans Membrane Transport Proteins Mutation Thiamine Thiamine Deficiency [Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review]. http://purl.org/coar/resource_type/c_6501