Different clinical forms of hereditary tyrosinemia (Type I) in patients with identical genotypes

Molecular Genetics and Metabolism

Volumn 64, Issue 2, 1998, Pages 119-125

  Poudrier, Jacques ^a   Lettre, Francine ^a   Scriver, Charles R ^b   Larochelle, Jean ^c   Tanguay, Robert M ^a  

^a UNIVERSITÉ LAVAL   (Canada)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c Clin de Pediat de Chicoutimi   (Canada)

Author keywords

Fumarylacetoacetate hydrolase; Liver regeneration; Mutation reversion; Tyrosinemia

Indexed keywords

DNA; FUMARYLACETOACETASE; PHENYLALANINE; PROTEIN; SUCCINYLACETONE; TYROSINE;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DIET; ENZYME ACTIVITY; FEMALE; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER REGENERATION; MOSAICISM; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TYROSINEMIA;

EID: 0031657820     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2695     Document Type: Article

References (24)

1. Lindblad B, Lindstedt S, Steen G. On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci USA. 74:1977;4641-4645.
2. Mitchell G A, Lambert M, Tanguay R M. Hypertyrosinemia. The Metabolic and Molecular Bases of Inherited Disease. 1995;McGraw-Hill, New York. p. 1077-1106.
3. Kvittingen E A. Hereditary tyrosinemia type I - an overview. Scand J Clin Lab Invest. 46:1986;27-34.
4. Tanguay R M, Valet J P, Lescault A, Duband J L, Laberge C, Lettre F, Plante M. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am J Hum Genet. 47:1990;308-316.
5. DeBraekeleer M, Larochelle J. Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet. 47:1990;302-307.
6. Grompe M, Al-Dhalimy M. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Hum Mutat. 2:1993;85-93.
7. Grompe M, St-Louis M, Demers S I, Al-Dhalimy M, Leclerc B, Tanguay R M. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with tyrosinemia type I. N Engl J Med. 331:1994;353-357.
8. Poudrier J, St-Louis M, Lettre F, Gibson K, Prévost C, Larochelle J, Tanguay R M. Frequency of the IVS12 + 5G → A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean. Prenat Diagn. 16:1996;59-64.
9. Van-Spronsen F J, Thomasse Y, Smit G PA, Leonard J V, Clayton P T, Fidler V, Berger R, Heymans H SA. Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment. Hepatology. 20:1994;1187-1191.
10. Kvittingen E A, Rootwelt H, Brandtzaeg P, Bergan A, Berger R. Hereditary tyrosinemia type I: Self-induced correction of the fumarylacetoacetase defect. J Clin Invest. 91:1993;1816-1821.
11. Kvittingen E A, Rootwelt H, Berger R, Brandtzaeg P. Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest. 94:1994;1657-1661.
12. Overturf K, Al-Dhalimy M, Tanguay R M, Brantly M, Ou C N, Finegold M, Grompe M. Hepatocytes corrected by gene therapy are selectedin vivo. Nat Genet. 12:1996;266-273.
13. Scriver C R, Silverberg M, Clow C L. Hereditary tyrosinemia and tyrosyluria: Clinical report of four patients. Can Med Assoc J. 97:1967;1047-1050.
14. Scriver C R, Larochelle J, Silverberg M. Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate. Am J Dis Child. 113:1967;41-46.
15. Tanguay R M, Laberge C, Lescault A, Valet J P, Duband J L, Quenneville Y. Molecular basis of hereditary tyrosinemias: Proof of the primary defect by Western blot. Ahmad F, Black S, Schultz J, Scott W A, Whelan W J. Advances in Gene technology: Human genetic disorders. 1984;256-257 ICSU, Cambridge.
16. Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay R M. Type 1 hereditary tyrosinemia: Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest. 90:1992;1185-1192.
17. Labelle Y, Puymirat J, Tanguay R M. Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type I. Biochim Biophys Acta. 1180:1993;250-256.
18. Walsh P S, Metzger D A, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques. 10:1991;506-513.
19. Grompe M, Al-Dhalimy M. Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation. Hum Mutat. 5:1995;105.
20. Thomas J O, Kornberg R D. An octamer of histones in chromatin and free in solution. Proc Natl Acad Sci USA. 72:1975;2626-2630.
21. Towbin H, Steahelin T, Gordon J. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications. Proc Natl Acad Sci USA. 76:1979;4350-4354.
22. Johnson D A, Gautsch J W, Sportsman J R, Elder J H. Improved technique utilizing nonfat dry milk for analysis of proteins and nucleic acids transferred to nitrocellulose. Gene Anal Tech. 1:1984;3-8.
23. Edwards S W, Knox W E. Enzymes involved in conversion of tyrosine to acetate. Clowick S P, Kaplan N O. Methods in Enzymology. 1955;298-300 Academic Press, New York.
24. Overturf K, Al-Dhalimy M, Ou C N, Finegold M, Tanguay R M, Lieber A, Kay M, Grompe M. Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. Hum Gene Ther. 8:1997;513-521.