Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hepatorenale Tyrosinämie

Die hepatorenalen Tyrosinämie ist eine autosomal rezessive Erkrankung die Durch eine Mutation im Tyrosinabbauweg hervorgerufen wird. Die renale Manifestation ist ein renotubuläres Fanconi-Syndrom.

Symptome

Proximaler Tubulusschaden
Die renale Maniferstation der hepatorenalen Tyrosinämie ist ein tubuläres Fanconi-Syndrom.

Gliederung

Metabolische Störungen der proximalen Tubulusfunktion
Cystinose
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Fruktoseintoleranz
Galactosämie
Glycogenspeicherkrankheit 1
Hepatorenale Tyrosinämie
FAH
Lowe-Syndrom
MELAS-Syndrom
Morbus Dent
Morbus Wilson

Referenzen:

1.

None (1979) Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse.

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2.

None (1979) Abstracts of meeting presentations.

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3.

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4.

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5.

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6.

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7.

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8.

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9.

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10.

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11.

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12.

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13.

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14.

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15.

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16.

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17.

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18.

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19.

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20.

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21.

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22.

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26.

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28.

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29.

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30.

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31.

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32.

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35.

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37.

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41.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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57.

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60.

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61.

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62.

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63.

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64.

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65.

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66.

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67.

Kang ES et. al. (1970) Hereditary tyrosinemia and abnormal pyrrole metabolism.

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68.

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69.

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70.

None (1969) Hereditary tyrosinemia in a French Canadian isolate.

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71.

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72.

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73.

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74.

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

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75.

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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76.

Hostetter MK et. al. (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.

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77.

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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78.

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79.

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

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80.

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

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81.

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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82.

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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83.

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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84.

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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85.

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86.

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87.

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

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88.

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89.

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90.

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91.

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

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92.

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93.

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94.

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95.

Malpuech G et. al. (1981) [Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].

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97.

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98.

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99.

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100.

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101.

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102.

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103.

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104.

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105.

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106.

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107.

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108.

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109.

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110.

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111.

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112.

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113.

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114.

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115.

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116.

None (1996) Round two for liver gene therapy.

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117.

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118.

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119.

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120.

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121.

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122.

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124.

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125.

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131.

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135.

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136.

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138.

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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139.

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140.

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141.

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142.

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143.

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144.

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145.

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146.

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

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147.

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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148.

Arranz JA et. al. (2002) Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

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None (1963) TYROSINOSIS.

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157.

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159.

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160.

None (2006) Classical galactosaemia revisited.

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161.

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

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162.

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

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163.

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

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164.

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

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