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Licensed Unlicensed Requires Authentication Published by De Gruyter January 11, 2017

Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation

Kathryn Potter, John Wu, Julie Lauzon and Josephine Ho

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.


Corresponding author: Dr. Josephine Ho, MD, Alberta Children’s Hospital, Pediatric Endocrinology, 2888 Shaganappi Trail NW, Calgary, Alberta, Canada T3B 6A8, Phone: 403-955-7819, Fax: 403-955-5001

Acknowledgments

We are grateful to the family of our patients who have agreed to share their children’s stories.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2016-8-12
Accepted: 2016-11-28
Published Online: 2017-1-11
Published in Print: 2017-2-1

©2017 Walter de Gruyter GmbH, Berlin/Boston