Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Ornithincarbamoyltransferase-Mangel

Der OTC-Mangel ist eine x-chromosomal rezessive metabolische Erkrankung, die durch erhöhte Ammoniak-Spiegel im Blut gekennzeichnet ist. Die Erkrankung kann durch eine proteinarme Diät und Arginin-Substitution behandelt werden.

Epidemiologie

OTC-Mangel ist die häufigste Erkrankung des Harnstoffzyklus. Die Prävalenz beträgt 1/40.000.[1]

Gliederung

Störungen des Harnstoffzyklus
Argininbernsteinsäure-Krankheit
Citrullinämie
Citrullinämie Typ 2
Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom
Ornithincarbamoyltransferase-Mangel
OTC
Ornithine-Aminotransferase-Mangel

Referenzen:

1.

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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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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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29.

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30.

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31.

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33.

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34.

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35.

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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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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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