Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Fumarylacetoacetase

Das FAH-Gen kodiert das letzte Enzym des Tyrosin-Katabolismus. Mutationen sind für die autosomal rezessive hepatorenale Tyrosinämie verantwortlich.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hepatorenale Tyrosinämie
FAH

Referenzen:

1.

None (1979) Abstracts of meeting presentations.

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2.

Tedesco TA et al. (1975) The genetic defect in galactosemia.

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3.

Kaufman F et al. (1979) Ovarian failure in galactosaemia.

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4.

Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.

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5.

Mohandas T et al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

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6.

Westerveld A et al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.

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7.

Mohandas T et al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

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8.

Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

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9.

Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.

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10.

Ibarra B et al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

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11.

Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.

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12.

Benson PF et al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

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13.

Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

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14.

Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.

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15.

Meera Khan P et al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

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16.

Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

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17.

Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.

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18.

Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.

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19.

Gitzelmann R et al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.

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20.

Reichardt JK et al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

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21.

Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.

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22.

Reichardt JK et al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

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23.

Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

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24.

Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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25.

Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.

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26.

Brivet M et al. (1989) Effect of lactation in a mother with galactosemia.

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27.

Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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28.

Harley JD et al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

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29.

Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

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30.

Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

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31.

Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia.

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32.

Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

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33.

Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts.

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34.

Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation.

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35.

Kelly S et al. (1972) A Duarte variant with clinical signs.

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36.

Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"].

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37.

Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

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38.

None (1967) Clinical variants of galactosemia.

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39.

Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

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40.

Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.

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41.

Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

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42.

Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

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43.

Shih LY et al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

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44.

Eriksen B et al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

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45.

Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.

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46.

Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

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47.

Mulcahy MT et al. (1980) Where is the gene for GALT?

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48.

Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

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49.

Eydoux P et al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

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50.

Dagna Bricarelli F et al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

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51.

Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

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52.

Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

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53.

Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

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54.

Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.

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55.

Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.

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56.

Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

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57.

Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.

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58.

Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

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59.

Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

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60.

Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

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61.

Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.

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62.

Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia.

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63.

Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation.

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64.

Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.

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65.

Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

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66.

Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

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67.

Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

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68.

Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

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69.

Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

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70.

Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

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71.

Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

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72.

Magrangeas F et al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.

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73.

Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

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74.

Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

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75.

Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

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76.

de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

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77.

Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.

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78.

Elsas LJ et al. () The molecular biology of galactosemia.

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79.

Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

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80.

Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

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81.

Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

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82.

Webb AL et al. (2003) Verbal dyspraxia and galactosemia.

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83.

DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.

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84.

WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.

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85.

BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

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86.

Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.

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87.

None (2006) Classical galactosaemia revisited.

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88.

Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

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89.

Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

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90.

Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

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91.

Phaneuf D et al. (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

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92.

Phaneuf D et al. (1991) Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

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93.

Hahn SH et al. (1995) Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

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94.

St-Louis M et al. (1995) Two novel mutations involved in hereditary tyrosinemia type I.

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95.

Demers SI et al. (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

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96.

Rootwelt H et al. (1994) Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

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97.

Grompe M et al. (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

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98.

St-Louis M et al. (1994) Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

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99.

Grompe M et al. (1993) Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.

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100.

Grompe M et al. (1993) Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

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101.

Labelle Y et al. (1993) Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

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102.

Timmers C et al. (1996) Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

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103.

St-Louis M et al. (1996) Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

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104.

Rootwelt H et al. (1996) Fumarylacetoacetase mutations in tyrosinaemia type I.

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105.

Poudrier J et al. (1998) Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

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106.

Kim SZ et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

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107.

Jorquera R et al. (2001) Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.

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108.

Wuestefeld T et al. (2013) A Direct in vivo RNAi screen identifies MKK4 as a key regulator of liver regeneration.

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109.

NCBI article

NCBI 2184 external link
110.

OMIM.ORG article

Omim 613871 external link
111.

Orphanet article

Orphanet ID 121686 external link
112.

Wikipedia Artikel

Wikipedia DE (Fumarylacetoacetase) external link
Update: 14. August 2020
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