Literature DB >> 7296877

Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.

E A Kvittingen, E Jellum, O Stokke.   

Abstract

The activity of human liver fumarylacetoacetate fumarylhydrolase (EC 3.7.1.2) has been determined with fumarylacetoacetate as substrate. The Km was found to be 1.3 mu mol/l. Subcellular fractionation showed localization of the enzyme in the particle-free supernatant (cytosol). ZnCl2, CuCl2 and p-chloromercuribenzoic acid had a marked inhibitory effect on the enzyme activity, but no inhibition was observed with a number of anions and substrate analogs. Fumarylacetoacetate fumarylhydorlase activity in liver tissue from a patient with hereditary tyrosinemia was found to be less 2% of the controls. The assay is applicable to 3 mg of liver tissue which may be obtained by needle biopsy.

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Year:  1981        PMID： 7296877     DOI： 10.1016/0009-8981(81)90244-8

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  14 in total

1.  Nucleotide sequence of cDNA encoding human fumarylacetoacetase.

Authors:  E Agsteribbe; H van Faassen; M V Hartog; T Reversma; J W Taanman; H Pannekoek; R F Evers; G M Welling; R Berger
Journal:  Nucleic Acids Res       Date:  1990-04-11       Impact factor: 16.971

2.  Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

Authors:  Francesca Angileri; Anne Bergeron; Geneviève Morrow; Francine Lettre; George Gray; Tim Hutchin; Sarah Ball; Robert M Tanguay
Journal:  JIMD Rep       Date:  2015-02-15

3.  Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

Authors:  E A Kvittingen; H Rootwelt; P Brandtzaeg; A Bergan; R Berger
Journal:  J Clin Invest       Date:  1993-04       Impact factor: 14.808

4.  A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia.

Authors:  F Endo; H Katoh; S Yamamoto; I Matsuda
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

5.  Development of Flow Injection Analysis Method for the Second-Tier Estimation of Succinylacetone in Dried Blood Spot of Newborn Screening.

Authors:  Bijo Varughese; Dnyanoba Madrewar; Sunil Kumar Polipalli; Seema Kapoor
Journal:  Indian J Clin Biochem       Date:  2021-01-06

Review 6.  Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells.

Authors:  F Endo; M S Sun
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982

7.  Hereditary tyrosinaemia type I: a long-term study of the relationship between the urinary excretions of succinylacetone and delta-aminolevulinic acid.

Authors:  H Schierbeek; G J Beukeveld; H van Faassen; F J van Spronsen; K Bijsterveld; E E Venekamp-Hoolsema; B G Wolthers; G P Smit
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

Authors:  R M Tanguay; J P Valet; A Lescault; J L Duband; C Laberge; F Lettre; M Plante
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

9.  Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.

Authors:  A J Lloyd; R G Gray; A Green
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 10.  Hepatorenal tyrosinemia.

Authors:  Teruo Kitagawa
Journal:  Proc Jpn Acad Ser B Phys Biol Sci       Date:  2012       Impact factor: 3.493
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