Literature DB >> 3317254

Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts.

R Berger1, H Van Faassen, J W Taanman, H De Vries, E Agsteribbe.   

Abstract

Type I hereditary tyrosinemia is characterized by the almost complete absence of fumarylacetoacetase in tissues and cells from patients. To investigate the nature of the enzyme deficiency, extracts of tissues (liver and kidney) and cells (lymphocytes and fibroblasts) were immunochemically screened for the presence of fumarylacetoacetase enzyme protein. The antibodies used were raised in rabbits against fumarylacetoacetase purified from beef liver. These antibodies cross-reacted strongly with the human enzyme. No cross-reacting material was found in extracts from liver (n = 4) and kidney (n = 1) from patients. Extracts from lymphocytes and cultured skin fibroblasts from patients were investigated as well. However, no cross-reacting material was found in extracts of these cells.

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Year:  1987        PMID： 3317254     DOI： 10.1203/00006450-198710000-00005

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


  17 in total

1.  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

2.  Cardiomyopathy in tyrosinaemia type I is common but usually benign.

Authors:  N Arora; O Stumper; J Wright; D A Kelly; P J McKiernan
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

3.  The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.

Authors:  H Rootwelt; E A Kvittingen; K Høie; E Agsteribbe; M Hartog; H van Faassen; R Berger
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

4.  Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

Authors:  H Rootwelt; E Brodtkorb; E A Kvittingen
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

5.  Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Authors:  D Phaneuf; M Lambert; R Laframboise; G Mitchell; F Lettre; R M Tanguay
Journal:  J Clin Invest       Date:  1992-10       Impact factor: 14.808

Review 6.  Current strategies for the treatment of hereditary tyrosinemia type I.

Authors:  Merja Ashorn; Sari Pitkänen; Matti K Salo; Markku Heikinheimo
Journal:  Paediatr Drugs       Date:  2006       Impact factor: 3.022

7.  Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

Authors:  H Rootwelt; R Berger; G Gray; D A Kelly; T Coşkun; E A Kvittingen
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

8.  Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

Authors:  J K Ploos van Amstel; A J Bergman; E A van Beurden; J F Roijers; T Peelen; I E van den Berg; B T Poll-The; E A Kvittingen; R Berger
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

9.  Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

Authors:  S I Demers; D Phaneuf; R M Tanguay
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

10.  A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

Authors:  David Cassiman; Renate Zeevaert; Elisabeth Holme; Eli-Anne Kvittingen; Jaak Jaeken
Journal:  Orphanet J Rare Dis       Date:  2009-12-15       Impact factor: 4.123
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