Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

None (1979) Abstracts of meeting presentations.

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2.

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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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24.

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26.

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31.

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36.

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37.

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38.

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39.

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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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59.

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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.

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68.

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69.

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70.

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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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88.

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89.

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

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