An Iranian Case with Fructose 1,6 Bisphosphatase Deficiency: A Case Report

Document Type : Case Report

Authors

1 Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2 Department of Pediatrics, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

3 Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

4 Department of Biology, Faculty of Science, Yazd University, Yazd, Iran

Abstract

Background: Deficiency of hepatic fructose 1,6 bisphosphatase (FBPase), a key enzyme in gluconeogenesis, impairs the formation of glucose from all gluconeogenic precursors including dietary fructose. Patients present with life threatening metabolic acidosis, fasting hypoglycemia, hepatomegaly, hyperketosis, elevated lactate and uric acid level. Glycerol and glycerol-3 phosphate have been found in the urine. The diagnosis of FBPase deficiency should be made by molecular analysis on DNA from peripheral leukocytes. The acute life threatening episodes should be treated with IV glucose at high rate and bicarbonate to control hypoglycemia and acidosis.
Case report: Here we reported a girl referred with anorexia, lethargy, recurrent vomiting, progressive respiratory distress, and hepatomegaly following respiratory viral infection. She also had a history of twice similar attacks but milder than previous episodes. The test results showed hypoglycemia and severe metabolic acidosis. Unfortunately, despite proper treatment, the patient died of pulmonary edema following a respiratory viral infection.
Conclusion: Once FBPase deficiency has been diagnosed and adequate management introduced, its course is usually benign. Growth and both psychomotor and intellectual development are unimpaired and tolerance to fasting improves with age.
 

Keywords


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Articles in Press, Accepted Manuscript
Available Online from 30 June 2022
  • Receive Date: 30 June 2022
  • Accept Date: 30 June 2022
  • First Publish Date: 30 June 2022