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Quoted phrase not found in phrase index: "Fructose-biphosphatase deficiency"
Page 1
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.
Gorce M, Lebigot E, Arion A, Brassier A, Cano A, De Lonlay P, Feillet F, Gay C, Labarthe F, Nassogne MC, Roche S, Roubertie A, Sacaze E, Touati G, Broué P. Gorce M, et al. J Inherit Metab Dis. 2022 Mar;45(2):215-222. doi: 10.1002/jimd.12452. Epub 2021 Dec 1. J Inherit Metab Dis. 2022. PMID: 34687058 Review.
Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose-1,6-bisphosphatase deficiency, a gluconeogenesis defect, are not reported in the literature. ...Herein, the liver manifestations of 18 patients a …
Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose-1,6-bisphosp …
Reactive hypoglycemia.
Hofeldt FD. Hofeldt FD. Metabolism. 1975 Oct;24(10):1193-208. doi: 10.1016/0026-0495(75)90156-0. Metabolism. 1975. PMID: 1165734
The spectrum of reactive hypoglycemia includes early alimentary-reactive hypoglycemia, late diabetic-reactive hypoglycemia, hormonal deficiency states, and idiopathic hypoglycemia. A new postprandial hypoglycemic disorder, fructose 1-6 diphosphatase …
The spectrum of reactive hypoglycemia includes early alimentary-reactive hypoglycemia, late diabetic-reactive hypoglycemia, hormonal defi …
Inborn errors of carbohydrate metabolism.
Mayatepek E, Hoffmann B, Meissner T. Mayatepek E, et al. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955963 Review.
Glycogen storage diseases (GSD) and inborn errors of galactose and fructose metabolism are the most common representatives of inborn errors of carbohydrate metabolism. ...A lactose-free infant formula can be life-saving in affected neonates whereas a strict fructose …
Glycogen storage diseases (GSD) and inborn errors of galactose and fructose metabolism are the most common representatives of inborn …
Disorders of gluconeogenesis.
van den Berghe G. van den Berghe G. J Inherit Metab Dis. 1996;19(4):470-7. doi: 10.1007/BF01799108. J Inherit Metab Dis. 1996. PMID: 8884571 Review.
Inborn deficiencies are known of each of the four enzymes of the glycolytic-gluconeogenic pathway that ensure a unidirectional flux from pyruvate to glucose: pyruvate carboxylase, phosphoenolpyruvate carboxykinase, fructose-1,6-bisphosphatase, and glucose-6-phosphatase. In …
Inborn deficiencies are known of each of the four enzymes of the glycolytic-gluconeogenic pathway that ensure a unidirectional flux from pyr …
International practices in the dietary management of fructose 1-6 biphosphatase deficiency.
Pinto A, Alfadhel M, Akroyd R, Atik Altınok Y, Bernabei SM, Bernstein L, Bruni G, Caine G, Cameron E, Carruthers R, Cochrane B, Daly A, de Boer F, Delaunay S, Dianin A, Dixon M, Drogari E, Dubois S, Evans S, Gribben J, Gugelmo G, Heidenborg C, Hunjan I, Kok IL, Kumru B, Liguori A, Mayr D, Megdad E, Meyer U, Oliveira RB, Pal A, Pozzoli A, Pretese R, Rocha JC, Rosenbaum-Fabian S, Serrano-Nieto J, Sjoqvist E, Timmer C, White L, van den Hurk T, van Rijn M, Zweers H, Ziadlou M, MacDonald A. Pinto A, et al. Orphanet J Rare Dis. 2018 Jan 25;13(1):21. doi: 10.1186/s13023-018-0760-3. Orphanet J Rare Dis. 2018. PMID: 29370874 Free PMC article.
BACKGROUND: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metabolic decompensat …
BACKGROUND: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis b …
Lactic acidosis in childhood.
Israels S, Haworth JC, Dunn HG, Applegarth DA. Israels S, et al. Adv Pediatr. 1976;22:267-303. Adv Pediatr. 1976. PMID: 178159 Review.
Children with chronic metabolic acidosis should be investigated to determine the presence of an organic acid, especially when the plasma electrolyte profile shows a deficiency of anion. One of the organic acids that should be looked for in such a patient is lactic acid. .. …
Children with chronic metabolic acidosis should be investigated to determine the presence of an organic acid, especially when the plasma ele …
Disorders of fructose metabolism.
Froesch ER. Froesch ER. Clin Endocrinol Metab. 1976 Nov;5(3):599-611. doi: 10.1016/s0300-595x(76)80042-4. Clin Endocrinol Metab. 1976. PMID: 189957
Hereditary fructose intolerance and fructose-1,6-diphosphatase deficiency are discussed in greater detail with regard to biochemical abnormalities and clinical aspects. ...Patients with HFI will have no clinical symptoms if kept on a f …
Hereditary fructose intolerance and fructose-1,6-diphosphatase deficiency are discussed in greater …
Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.
Emecen Sanli M, Cengiz B, Kilic A, Ozsaydi E, Inci A, Okur I, Tumer L, Lebigot E, Ezgu F. Emecen Sanli M, et al. J Pediatr Endocrinol Metab. 2022 Feb 18;35(4):497-503. doi: 10.1515/jpem-2021-0732. Print 2022 Apr 26. J Pediatr Endocrinol Metab. 2022. PMID: 35179010
OBJECTIVES: Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by FBP1, and the enzyme catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose 6-phosphate. Patients with …
OBJECTIVES: Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is …
Hypoglycaemia related to inherited metabolic diseases in adults.
Douillard C, Mention K, Dobbelaere D, Wemeau JL, Saudubray JM, Vantyghem MC. Douillard C, et al. Orphanet J Rare Dis. 2012 May 15;7:26. doi: 10.1186/1750-1172-7-26. Orphanet J Rare Dis. 2012. PMID: 22587661 Free PMC article. Review.
Fasting hypoglycaemia may be caused by IEM that were already diagnosed in childhood and persist into adulthood: glycogen storage disease (GSD) type I, III, 0, VI and IX; glucose transporter 2 deficiency; fatty acid oxidation; ketogenesis disorders; and gluconeogenesis diso …
Fasting hypoglycaemia may be caused by IEM that were already diagnosed in childhood and persist into adulthood: glycogen storage disease (GS …
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.
Ijaz S, Zahoor MY, Imran M, Ramzan K, Bhinder MA, Shakeel H, Iqbal M, Aslam A, Shehzad W, Cheema HA, Rehman H. Ijaz S, et al. J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1203-1210. doi: 10.1515/jpem-2017-0188. J Pediatr Endocrinol Metab. 2017. PMID: 29016355
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bi …
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent …
61 results