Literature DB >> 2347355

Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.

P Bührdel1, H J Böhme, L Didt.   

Abstract

Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.

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Year:  1990        PMID： 2347355     DOI： 10.1007/bf01957696

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  7 in total

1.  Purification and characterization of alkaline phosphatase in cultured rat liver cells.

Authors:  Y Yokota
Journal:  J Biochem       Date:  1978-05       Impact factor: 3.387

2.  A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.

Authors:  M M Bradford
Journal:  Anal Biochem       Date:  1976-05-07       Impact factor: 3.365

3.  Fructose-1,6-diphosphatase deficiency: diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods.

Authors:  D Alexander; M Assaf; A Khudr; I Haddad; A Barakat
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Metabolic and biochemical studies in fructose 1,6-diphosphatase deficiency.

Authors:  S B Melancon; A K Khachadurian; H L Nadler; B I Brown
Journal:  J Pediatr       Date:  1973-04       Impact factor: 4.406

5.  Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

Authors:  L Baker; A I Winegrad
Journal:  Lancet       Date:  1970-07-04       Impact factor: 79.321

6.  Detection of heterozygotes for fructose 1,6-diphosphatase deficiency by measuring fructose 1,6-diphosphatase activity in their cultured peripheral lymphocytes.

Authors:  M Ito; Y Kuroda; H Kobashi; T Watanabe; E Takeda; K Toshima; M Miyao
Journal:  Clin Chim Acta       Date:  1984-08-15       Impact factor: 3.786

7.  Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver.

Authors:  G Hug; W K Schubert; G Chuck
Journal:  J Clin Invest       Date:  1969-04       Impact factor: 14.808
  7 in total
  10 in total

1.  Fructose 1,6 diphosphatase deficiency in a Turkish infant.

Authors:  Betül Tavil; Tansu Sipahi
Journal:  Eur J Pediatr       Date:  2003-07-25       Impact factor: 3.183

Review 2.  Disorders of gluconeogenesis.

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

3.  Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.

Authors:  G T Besley; J H Walter; M A Lewis; C R Chard; G M Addison
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy.

Authors:  Y Kikawa; Y S Shin; M Inuzuka; E Zammarchi; M Mayumi
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

5.  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

6.  Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

Authors:  Y Kikawa; M Inuzuka; B Y Jin; S Kaji; J Koga; Y Yamamoto; K Fujisawa; I Hata; A Nakai; Y Shigematsu; H Mizunuma; A Taketo; M Mayumi; M Sudo
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

7.  Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

Authors:  Elise Lebigot; Anaïs Brassier; Mokhtar Zater; Dilek Imanci; François Feillet; Patrice Thérond; Pascale de Lonlay; Audrey Boutron
Journal:  J Inherit Metab Dis       Date:  2015-01-20       Impact factor: 4.982

8.  Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients.

Authors:  Y S Shin
Journal:  Clin Investig       Date:  1993-02

9.  Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder.

Authors:  Mahesh Kamate; Milind Jambagi; Prashanth Gowda; Smita Sonoli
Journal:  BMJ Case Rep       Date:  2014-09-22

10.  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
  10 in total

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