title: Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation.
abstract: Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months' old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She was started on insulin and developed sensorineural hearing loss around 2 years old. Two siblings were found to have the same mutation and were started on thiamine. One sibling developed transient hyperglycemia after several years of thiamine supplementation of 12 mg/kg that resolved with an increased thiamine dose (23 mg/kg). A younger sibling continues to remain diabetes-free on thiamine (24 mg/kg). The clinical course in this family suggests that there is an effect of thiamine on pancreatic beta cell function in patients with TRMA given the resolution of impaired fasting glucose with increasing thiamine dose in one sibling and the lack of diabetes to date in the siblings that were treated early with thiamine.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Potter
authors.forename: John
authors.initials: J
authors.lastname: Wu
authors.forename: Julie
authors.initials: J
authors.lastname: Lauzon
authors.forename: Josephine
authors.initials: J
authors.lastname: Ho
mesh_terms: D000749:Anemia, Megaloblastic / Q000188:drug therapy* / Q000378:metabolism / Q000473:pathology; D003920:Diabetes Mellitus / Q000139:chemically induced / Q000188:drug therapy* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000139:chemically induced / Q000188:drug therapy* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007328:Insulin / Q000008:administration & dosage; D050417:Insulin-Secreting Cells / Q000187:drug effects / Q000502:physiology*; D008297:Male; D011379:Prognosis; D035781:Siblings; D013831:Thiamine / Q000627:therapeutic use*; D013832:Thiamine Deficiency / Q000151:congenital* / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology
chemical_list: D007328:Insulin; D013831:Thiamine