scholarly journals Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control

2014 ◽  
pp. 115-118 ◽  
Author(s):  
Genki Sugita ◽  
Hideaki Tsuyoshi ◽  
Koji Nishijima ◽  
Yoshio Yoshida
Keyword(s):  
Metabolic Control ◽  
Successful Pregnancy ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency

2007 ◽  
Vol 30 (5) ◽  
pp. 819-819 ◽  
Author(s):  
V. Krishnamurthy ◽  
K. Eschrich ◽  
A. Boney ◽  
J. Sullivan ◽  
M. McDonald ◽  
...  
Keyword(s):  
Dietary Management ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

scholarly journals A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency

2010 ◽  
Vol 33 (1) ◽  
pp. 25-31 ◽  
Author(s):  
Hidde H. Huidekoper ◽  
Gepke Visser ◽  
Mariëtte T. Ackermans ◽  
Hans P. Sauerwein ◽  
Frits A. Wijburg
Keyword(s):  
Glucose Homeostasis ◽  
Potential Role ◽  
Storage Disease ◽  
Kinetic Studies ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia

1995 ◽  
Vol 18 (1) ◽  
pp. 28-32 ◽  
Author(s):  
A. A. M. Morris ◽  
S. Deshpande ◽  
M. P. Ward-Platt ◽  
A. E. Whitfield ◽  
A. Aynsley-Green ◽  
...  
Keyword(s):  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

Novel mutations in patients with fructose-1,6-bisphosphatase deficiency

1999 ◽  
Vol 22 (2) ◽  
pp. 132-138 ◽  
Author(s):  
B. Herzog ◽  
U. Wendel ◽  
A. A. M. Morris ◽  
K. Eschrich
Keyword(s):  
Novel Mutations ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

scholarly journals A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

2016 ◽  
Vol 11 (1) ◽  
Author(s):  
René Santer ◽  
Marcel du Moulin ◽  
Tatevik Shahinyan ◽  
Inga Vater ◽  
Esther Maier ◽  
...  
Keyword(s):  
Long Range ◽  
Molecular Genetic ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

scholarly journals Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children

2020 ◽  
Vol 41 (2) ◽  
pp. 199-202
Author(s):  
Rihab Salih ◽  
Esraa Mohammed ◽  
Amal Alhashem ◽  
Sarar Mohamed ◽  
Aida Al-aqeel
Keyword(s):  
Molecular Diagnosis ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

scholarly journals Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP 1 gene mutation

2019 ◽  
Vol 3 (2) ◽  
pp. 122-126
Author(s):  
Shiyue Mei ◽  
Chao Ma ◽  
Yibing Cheng ◽  
Suyun Qian ◽  
Zhipeng Jin
Keyword(s):  
Status Epilepticus ◽  
Gene Mutation ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

Fructose-1,6-Bisphosphatase Deficiency: A Pediatric Case Report

2021 ◽  
Author(s):  
jiaying cao ◽  
lu xu ◽  
jiahua pan
Keyword(s):  
Case Report ◽  
Glucose Metabolism ◽  
Compound Heterozygote ◽  
Metabolic Decompensation ◽  
Pediatric Case ◽  
Case Presentation ◽  
Fructose 1,6 Bisphosphatase ◽  
Chromosome 9Q22 ◽  
Bisphosphatase Deficiency

Abstract Background: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare disorder of glucose metabolism, mainly revealed by hypoglycemia and lactic acidosis. The disease is caused by a mutation of FBP1 gene, which is clustered in a 31-kb region on chromosome 9q22. Case presentation: We described a two-and-half-year-old boy diagnosed as FBPase deficiency. The result of gene analysis showed that the patient had a compound heterozygote for the G164S and P308R, respectively inherited from his father and mother. To some degree, mutations are associated with activity of enzyme, which is corresponding to the level of glucose and extent of brain damage. Patients are advised to reduce intake of fructose and sucrose and avoid long-term fasting in order to reduce the risk of metabolic decompensation. Conclusions: This report would like to provide profound insights of FBPase deficiency.

scholarly journals Metabolic control of hepatic gluconeogenesis during exercise

1983 ◽  
Vol 212 (3) ◽  
pp. 633-639 ◽  
Author(s):  
G L Dohm ◽  
E A Newsholme
Keyword(s):  
Metabolic Control ◽  
Pyruvate Kinase ◽  
Pyruvate Carboxylase ◽  
Phosphoenolpyruvate Carboxykinase ◽  
Prolonged Exercise ◽  
Allosteric Effectors ◽  
Fructose 1,6 Bisphosphatase ◽  
Metabolite Concentrations ◽  
Fructose 1,6 Bisphosphate ◽  
Hexose Phosphates

Prolonged exercise increased the concentrations of the hexose phosphates and phosphoenolpyruvate and depressed those of fructose 1,6-bisphosphate, triose phosphates and pyruvate in the liver of the rat. Since exercise increases gluconeogenic flux, these changes in metabolite concentrations suggest that metabolic control is exerted, at least, at the fructose 6-phosphate/fructose 1,6-bisphosphate and phosphoenolpyruvate/pyruvate substrate cycles. Exercise increased the maximal activities of glucose 6-phosphatase, fructose 1,6-bisphosphatase, pyruvate kinase and pyruvate carboxylase in the liver, but there were no changes in those of glucokinase, 6-phosphofructokinase and phosphoenolpyruvate carboxykinase. Exercise changed the concentrations of several allosteric effectors of the glycolytic or gluconeogenic enzymes in liver; the concentrations of acetyl-CoA, ADP and AMP were increased, whereas those of ATP, fructose 1,6-bisphosphate and fructose 2,6-bisphosphate were decreased. The effect of exercise on the phosphorylation-dephosphorylation state of pyruvate kinase was investigated by measuring the activities under conditions of saturating and subsaturating concentrations of substrate. The submaximal activity of pyruvate kinase (0.5 mM-phosphoenolpyruvate), expressed as percentage of Vmax., decreased in the exercised animals to less than half that found in the controls. These changes suggest that hepatic pyruvate kinase is less active during exercise, possibly owing to phosphorylation of the enzyme, and this may play a role in increasing the rate of gluconeogenesis.

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