Case Report
Volume 5 Issue 6 - 2022
Fructose 1, 6 Diphosphatase Enzyme Deficiency, Unrevealed Cause of Hypoglycemia
Saima Asghar* and Ahmad Abdullah
Consultant Pediatrics and Neonatology, Zubaida Memorial Hospital, Pakistan
*Corresponding Author: Saima Asghar, Consultant Pediatrics and Neonatology, Zubaida Memorial Hospital, Pakistan.
Received: June 06, 2022; Published: June 22, 2022




Abstract

Hepatic fructose 1, 6-diphosphatase (FDPase) is one of the four rate limiting enzymes in gluconeogenesis. While investigating a four year old girl with chronic lactic acidosis and fasting hypoglycemia, evidence was accumulated which implicated a defect in hepatic gluconeogenesis by a deficiency of FDPase activity. Rational dietary therapy was instituted which has controlled the recurrence of chronic lactic acidosis and permitted normal mental and physical development. Deficiency of hepatic FDPase was first confirmed in 1970 by Baker and Winegrad. They reported the dramatic clinical picture of acidosis in response to D-fructose challenge [1]. The gene encoding FDPase was reported in 1995 [2,3] and several mutations resulting in loss of function have subsequently been reported in American and Japanese patients [4-6].

Keywords: Fructose 1, 6 Bisphosphatase (FBSpase); Hypoglycemia; Lactic Acidosis; Molecular Genetics

References

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  2. Paksu MS., et al. “Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis”. Pediatric Emergency Care 12 (2011): 1180-1181.
  3. El-Maghrabi MR., et al. “Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency”. Genomics3 (1995): 520-525.
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Citation: Saima Asghar and Ahmad Abdullah. “Fructose 1, 6 Diphosphatase Enzyme Deficiency, Unrevealed Cause of Hypoglycemia”. EC Clinical and Medical Case Reports 5.6 (2022): 94-97.

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