Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Klassische Homocysteinurie

Die klassische Homocysteinurie ist eine autosomal rezessive Erkrankung die auf einem Mangel an Cystathionin beta-Synthase beruht, die vom CBS-Gen kodiert wird.

Gliederung

Störungen des Cobalaminstoffwechsels
Homozysteinurie und megaloblastäre Anämie cblE
Homozysteinurie und megaloblastäre Anämie cblG
Klassische Homocysteinurie
CBS
Methylmalonazidurie Typ mut
Methylmalonazidurie cblA
Methylmalonazidurie cblB
Methylmalonazidurie mit Homozysteinurie cblC
Methylmalonazidurie mit Homozysteinurie cblD
Methylmalonazidurie mit Homozysteinurie cblF
Methylmalonazidurie mit Homozysteinurie cblJ

Referenzen:

1.

Kluijtmans LA et al. (1996) Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

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2.

Kim YJ et al. (1974) On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts.

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3.

Skovby F et al. (1984) Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.

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4.

Hu FL et al. (1993) Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

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5.

Gallagher PM et al. (1995) High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.

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6.

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7.

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8.

None (1994) Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

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9.

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10.

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11.

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14.

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19.

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20.

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21.

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22.

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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.

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32.

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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.

None (1985) Vascular disease and homocysteine metabolism.

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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.

None (1968) Activation of Hageman factor by L-homocystine.

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53.

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54.

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55.

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56.

None (1967) Dietary treatment of homocystinuria.

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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.

None (1996) Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid.

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71.

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72.

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73.

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74.

None (1998) Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency.

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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.

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92.

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93.

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94.

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95.

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96.

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97.

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98.

OMIM.ORG article

Omim 236200 [^]
99.

Orphanet article

Orphanet ID 394 [^]
Update: 29. April 2019