Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.
This study introduces a patient who has thiamine and thiamine pyrophosphokinase (TPKase) enzyme deficiency associated with diabetes mellitus, sensorineural deafness and thiamine-responsive megaloblastic anemia. Diabetes mellitus was diagnosed when she was 20 months old. After 1 year, macrocytic anemia developed and the thiamine therapy was started at 75 mg/day. During the follow-up, the insulin requirement decreased and even ceased, and macrocytic anemia improved with thiamine treatment. After thiamine therapy was ceased an increase in insulin requirement was observed and macrocytic anemia developed again.
Pediatric Endocrinology Unit, Dr Sami Ulus Children's Hospital, Ankara, Turkey.
A
A
Akinci
T
T
Teziç
G
G
Ertürk
O
O
Tarim
K
K
Dalva
D000749:Anemia, Megaloblastic / Q000097:blood / Q000150:complications* / Q000188:drug therapy; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000188:drug therapy / Q000201:enzymology; D005260:Female; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000209:etiology*; D006801:Humans; D007223:Infant; D007328:Insulin / Q000627:therapeutic use; D013836:Thiamin Pyrophosphokinase / Q000172:deficiency; D013831:Thiamine / Q000627:therapeutic use
D007328:Insulin; D013836:Thiamin Pyrophosphokinase; D013831:Thiamine