Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Galactosämie

Die Galaktosämie ist eine autosomal rezessive Erkrankung des Galaktose-Stoffwechsels, der sich bereits unmittelbar nach der ersten Milchnahrung entwickelt. Die Symptome betraffen vor allem die Leber (Hepatosplenomegalie, Ikterus). Die renale Manifestation ist ein renotubuläres Fanconi-Syndrom.

Symptome

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

Gliederung

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

Referenzen:

1.

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

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2.

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

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3.

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4.

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6.

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8.

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9.

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13.

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19.

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21.

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22.

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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23.

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24.

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25.

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26.

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27.

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28.

None (2006) Classical galactosaemia revisited.

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38.

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40.

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41.

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42.

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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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55.

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56.

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57.

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58.

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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.

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68.

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69.

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71.

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72.

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73.

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74.

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75.

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76.

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77.

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78.

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79.

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80.

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81.

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82.

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83.

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84.

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85.

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86.

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87.

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88.

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89.

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90.

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91.

OMIM.ORG article

Omim 230400 external link
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Orphanet article

Orphanet ID 352 external link
Update: 14. August 2020
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