title: Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.
abstract: Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. Mutations in the SLC19A2 gene, encoding a high-affinity thiamine transporter protein, THTR-1, are responsible for the clinical features associated with thiamine-responsive megaloblastic anemia syndrome in which treatment with pharmacological doses of thiamine correct the megaloblastic anemia and diabetes mellitus. The anemia can recur when thiamine is withdrawn. Thiamine may be effective in preventing deafness if started before two months. Our patient was found homozygous for a mutation, 242insA, in the nucleic acid sequence of exon B, with insertion of an adenine introducing a stop codon at codon 52 in the high-affinity thiamine transporter gene, SLC19A2, on chromosome 1q23.3.
authors.affiliation: Department of Pediatrics, Bakirköy Training Hospital, Istanbul, Turkey.
authors.forename: Hasan
authors.initials: H
authors.lastname: Onal
authors.forename: Safa
authors.initials: S
authors.lastname: Bariş
authors.forename: Mine
authors.initials: M
authors.lastname: Ozdil
authors.forename: Gözde
authors.initials: G
authors.lastname: Yeşil
authors.forename: Gürkan
authors.initials: G
authors.lastname: Altun
authors.forename: Isa
authors.initials: I
authors.lastname: Ozyilmaz
authors.forename: Ahmet
authors.initials: A
authors.lastname: Aydin
authors.forename: Tiraje
authors.initials: T
authors.lastname: Celkan
mesh_terms: D000749:Anemia, Megaloblastic / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D003638:Deafness / Q000235:genetics / Q000517:prevention & control*; D042241:Early Diagnosis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D013577:Syndrome; D013831:Thiamine / Q000008:administration & dosage*; D014803:Vitamin B Complex / Q000008:administration & dosage*
chemical_list: D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D014803:Vitamin B Complex; D013831:Thiamine