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

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

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

Novel Fructose-1,6-bisphosphatase Gene Mutation in Two Siblings

2013 ◽  
Vol 32 (11) ◽  
pp. 635-639 ◽  
Author(s):  
Erdal Eren ◽  
Tuba Edgunlu ◽  
Mahmut Abuhandan ◽  
Ilhan Yetkin
Keyword(s):  
Gene Mutation ◽  
Fructose 1,6 Bisphosphatase

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

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.

Fructose 1,6‐bisphosphatase deficiency as a cause of childhood interstitial lung disease

2021 ◽  
Author(s):  
Rebecca Devaney ◽  
Timothy Simpson ◽  
Andrew Bush ◽  
Sumit Jagani ◽  
Andrew G. Nicholson ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency ◽  
Childhood Interstitial Lung Disease
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