Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.

Abstract

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.

• Authors: A Akinci, T Teziç, G Ertürk, O Tarim, K Dalva
• Journal: Acta paediatrica Japonica : Overseas edition (Acta Paediatr Jpn) Vol. 35 Issue 3 Pg. 262-6 (Jun 1993) ISSN: 0374-5600 [Print] Australia
• PMID: 8394635 (Publication Type: Case Reports, Journal Article)

Chemical References

• Insulin
• Thiamin Pyrophosphokinase
• Thiamine

Topics

• Anemia, Megaloblastic (blood, complications, drug therapy)
• Diabetes Mellitus, Type 1 (complications, drug therapy, enzymology)
• Female
• Follow-Up Studies
• Hearing Loss, Sensorineural (etiology)
• Humans
• Infant
• Insulin (therapeutic use)
• Thiamin Pyrophosphokinase (deficiency)
• Thiamine (therapeutic use)