Literature DB >> 7623439

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

A A Morris1, S Deshphande, M P Ward-Platt, A E Whitfield, A Aynsley-Green, J V Leonard, M Pourfarzam, K Bartlett.   

Abstract

Intermediary metabolite concentrations were measured in blood during fasting in two patients with fructose-1,6-bisphosphatase deficiency. Hypoglycaemia was accompanied by markedly raised levels of plasma free fatty acids, without the expected degree of ketosis. This suggests that there is secondary impairment of ketogenesis in this condition, and could lead to diagnostic confusion.

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Year:  1995        PMID： 7623439     DOI： 10.1007/bf00711369

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

1.  The effects of anesthesia and surgery on metabolic homeostasis in infancy and childhood.

Authors:  M P Ward Platt; M J Tarbit; A Aynsley-Green
Journal:  J Pediatr Surg       Date:  1990-05       Impact factor: 2.545

2.  Patterns of metabolic adaptation for preterm and term infants in the first neonatal week.

Authors:  J M Hawdon; M P Ward Platt; A Aynsley-Green
Journal:  Arch Dis Child       Date:  1992-04       Impact factor: 3.791

3.  Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.

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Journal:  J Clin Invest       Date:  1972-08       Impact factor: 14.808

4.  Natural activators for liver fructose 1,6-diphosphatase and the reversal of adenosine 5'-monophosphate inhibition by muscle phosphofructokinase.

Authors:  B M Pogell; A Tanaka; R C Siddons
Journal:  J Biol Chem       Date:  1968-04-10       Impact factor: 5.157

Review 5.  Regulation of hepatic fatty acid oxidation and ketone body production.

Authors:  J D McGarry; D W Foster
Journal:  Annu Rev Biochem       Date:  1980       Impact factor: 23.643

6.  Blood glucose, lactate, pyruvate, glycerol, 3-hydroxybutyrate and acetoacetate measurements in man using a centrifugal analyser with a fluorimetric attachment.

Authors:  J Harrison; A W Hodson; A W Skillen; R Stappenbeck; L Agius; K G Alberti
Journal:  J Clin Chem Clin Biochem       Date:  1988-03

7.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  S Jackson; K Bartlett; J Land; E R Moxon; R J Pollitt; J V Leonard; D M Turnbull
Journal:  Pediatr Res       Date:  1991-04       Impact factor: 3.756
  7 in total
  8 in total

Review 1.  Disorders of gluconeogenesis.

Authors:  G van den Berghe
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease.

Authors:  A A Morris; A Thekekara; Z Wilks; P T Clayton; J V Leonard; A Aynsley-Green
Journal:  Arch Dis Child       Date:  1996-08       Impact factor: 3.791

3.  Hypoglycaemic effect of AICAriboside in mice.

Authors:  M F Vincent; M D Erion; H E Gruber; G Van den Berghe
Journal:  Diabetologia       Date:  1996-10       Impact factor: 10.122

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

Authors:  B Herzog; U Wendel; A A Morris; K Eschrich
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

5.  Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Authors:  Muhammad Faiyaz-Ul-Haque; Mohammed Al-Owain; Fouad Al-Dayel; Zuhair Al-Hassnan; Hamad Al-Zaidan; Zuhair Rahbeeni; Moeen Al-Sayed; Ameera Balobaid; Ahmad Cluntun; Mohamed Toulimat; Hala Abalkhail; Iskra Peltekova; Syed H E Zaidi
Journal:  Eur J Pediatr       Date:  2009-03-04       Impact factor: 3.183

Review 6.  Disorders of mitochondrial long-chain fatty acid oxidation.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 7.  Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Authors:  Swati Chaturvedi; Ashok K Singh; Amit K Keshari; Siddhartha Maity; Srimanta Sarkar; Sudipta Saha
Journal:  Scientifica (Cairo)       Date:  2016-03-09

8.  International practices in the dietary management of fructose 1-6 biphosphatase deficiency.

Authors:  A Pinto; M Alfadhel; R Akroyd; Y Atik Altınok; S M Bernabei; L Bernstein; G Bruni; G Caine; E Cameron; R Carruthers; B Cochrane; A Daly; F de Boer; S Delaunay; A Dianin; M Dixon; E Drogari; S Dubois; S Evans; J Gribben; G Gugelmo; C Heidenborg; I Hunjan; I L Kok; B Kumru; A Liguori; D Mayr; E Megdad; U Meyer; R B Oliveira; A Pal; A Pozzoli; R Pretese; J C Rocha; S Rosenbaum-Fabian; J Serrano-Nieto; E Sjoqvist; C Timmer; L White; T van den Hurk; M van Rijn; H Zweers; M Ziadlou; A MacDonald
Journal:  Orphanet J Rare Dis       Date:  2018-01-25       Impact factor: 4.123
  8 in total

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