title: Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.
abstract: Thiamine-responsive megaloblastic anemia (TRMA) is a rare disorder typically characterized by megaloblastic anemia, non-type I diabetes and sensorineural deafness. It is caused by various mutations in the SLC19A2 gene that impair the encoded thiamine transporter. So far, only 70 affected individuals mainly from consanguineous families of Middle and Far Eastern origin with a wide spectrum of signs and symptoms, variable onset of disease, and primarily homozygote mutations in SLC19A2 have been reported. We present the first genuine central European descendent with combined heterozygote mutations in SLC19A2, an Austrian boy suffering from pancytopenia and non-type I diabetes. Both manifestations resolved completely under continuous oral thiamine supplementation. Our observation underlines that despite its rarity, TRMA must be considered as an important differential diagnosis in native central European patients with suggestive signs and symptoms. An early molecular genetic verification of the diagnosis provides a sound basis for a successful and simple treatment that helps to prevent severe sequelae.
authors.affiliation: Pediatric Hematology and Oncology, St. Anna Children's Hospital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
authors.forename: Herbert
authors.initials: H
authors.lastname: Pichler
authors.forename: Petra
authors.initials: P
authors.lastname: Zeitlhofer
authors.forename: Michael N
authors.initials: MN
authors.lastname: Dworzak
authors.forename: Christopher
authors.initials: C
authors.lastname: Diakos
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
authors.forename: Leo
authors.initials: L
authors.lastname: Kager
mesh_terms: D000749:Anemia, Megaloblastic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D001317:Austria; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005819:Genetic Markers; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency / Q000235:genetics; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense; D013832:Thiamine Deficiency / Q000151:congenital; D044465:White People
chemical_list: D005819:Genetic Markers; D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D007655:Ketoglutarate Dehydrogenase Complex