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.

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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2.

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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3.

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

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4.

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

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5.

Sebastio G et. al. (1995) The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

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6.

Watanabe M et. al. (1995) Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia.

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7.

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

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8.

Kruger WD et. al. (1995) A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.

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9.

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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10.

Tsai MY et. al. (1996) High prevalence of a mutation in the cystathionine beta-synthase gene.

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11.

Gaustadnes M et. al. (1999) Prevalence of congenital homocystinuria in Denmark.

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12.

Kraus JP et. al. (1999) Cystathionine beta-synthase mutations in homocystinuria.

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13.

Kluijtmans LA et. al. (1999) The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

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14.

Gaustadnes M et. al. (2000) Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.

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15.

Janosík M et. al. (2001) Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

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16.

Maclean KN et. al. (2002) High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

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17.

Kelly PJ et. al. (2003) Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.

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18.

Kruger WD et. al. (2003) Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

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19.

Wang L et. al. (2005) Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

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20.

Lee SJ et. al. (2005) Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

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21.

Urreizti R et. al. (2006) The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

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22.

Testai FD et. al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

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23.

Mudd SH et. al. (1969) A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria.

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24.

Fowler B et. al. (1978) Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts.

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25.

Almgren B et. al. (1978) Abdominal aortic aneurysm in homocystinuria.

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26.

Wilcken DE et. al. (1976) The pathogenesis of coronary artery disease. A possible role for methionine metabolism.

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27.

Uhlemann ER et. al. (1976) Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency.

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28.

Collins JE et. al. (1990) Pancreatitis and homocystinuria.

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29.

Cochran FB et. al. (1990) Pyridoxine-unresponsive homocystinuria with an unusual clinical course.

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30.

Burke JP et. al. (1989) Ocular complications in homocystinuria--early and late treated.

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31.

Malinow MR et. al. (1989) Prevalence of hyperhomocyst(e)inemia in patients with peripheral arterial occlusive disease.

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32.

Abbott MH et. al. (1987) Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.

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33.

Kang SS et. al. (1986) Protein-bound homocyst(e)ine. A possible risk factor for coronary artery disease.

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34.

None (1985) Homocystinuria. Clinical, biochemical and genetic aspects of cystathionine beta-synthase and its deficiency in man.

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35.

Mudd SH et. al. (1985) The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

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36.

Wilcken DE et. al. (1985) Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.

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37.

Boers GH et. al. (1985) Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.

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38.

Boers GH et. al. (1985) Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.

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39.

None (1985) Vascular disease and homocysteine metabolism.

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40.

Perry TL et. al. (1968) Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor.

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41.

Shipman RT et. al. (1969) Homocystinuria, addisonian pernicious anaemia, and partial deletion of a G chromosome.

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42.

Harker LA et. al. (1974) Homocystinemia. Vascular injury and arterial thrombosis.

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43.

Goldstein JL et. al. (1973) Homocystinuria: heterozygote detection using phytohemagglutinin-stimulated lymphocytes.

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44.

Shelley WB et. al. (1972) Pyridoxine-dependent hair pigmentation in association with homocystinuria. The induction of melanotrichia.

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45.

Mudd SH et. al. (1970) Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.

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46.

Shih VE et. al. (1970) Pyridoxine-unresponsive homocystinuria.

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47.

McCully KS et. al. (1970) Production of arteriosclerosis by homocysteinemia.

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48.

Uhlendorf BW et. al. (1968) Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria.

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49.

Carey MC et. al. (1968) Homocystinuria. II. Subnormal serum folate levels, increased folate clearance and effects of folic acid therapy.

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50.

Carey MC et. al. (1968) Homocystinuria. I. A clinical and pathological study of nine subjects in six families.

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51.

Wong PW et. al. (1968) The biosynthesis of cystathionine in patients with homocystinuria.

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52.

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

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53.

Kaeser AC et. al. (1969) Psychiatric and biochemical aspects of a case of homocystinuria.

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54.

Carson NA et. al. (1969) Treatment of homocystinuria with pyridoxine. A preliminary study.

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55.

None (1969) Homocystinuria: vitamin B6 dependent or not?

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56.

None (1967) Dietary treatment of homocystinuria.

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57.

Spaeth GL et. al. (1967) Prevalence of homocystinuria among the mentally retarded: evaluation of a specific screening test.

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58.

Tada K et. al. (1967) Homocystinuria: amino acid pattern of the liver.

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59.

None (1982) The nature of the ocular zonule.

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60.

Munnich A et. al. (1983) Diet-responsive proconvertin (factor VII) deficiency in homocystinuria.

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61.

Wilcken DE et. al. (1983) Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.

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62.

Skovby F et. al. (1982) Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.

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63.

Mudd SH et. al. (1981) A study of cardiovascular risk in heterozygotes for homocystinuria.

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64.

Kurczynski TW et. al. (1980) Maternal homocystinuria: studies of an untreated mother and fetus.

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65.

Mudd SH et. al. (1995) Plasma homocyst(e)ine or homocysteine?

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66.

Reish O et. al. (1995) Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.

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67.

Kozich V et. al. (1995) Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

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68.

Malinow MR et. al. (1994) Role of plasma homocyst(e)ine in arterial occlusive diseases.

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69.

Di Minno G et. al. (1993) Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.

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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.

Mandel H et. al. (1996) Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis.

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72.

Lubec B et. al. (1996) Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.

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73.

Bass HN et. al. (1997) Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

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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.

Nugent A et. al. (1998) Long-term survival of homocystinuria: the first case.

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76.

Harrison DA et. al. (1998) Management of ophthalmic complications of homocystinuria.

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77.

Yap S et. al. (1998) Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.

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78.

Gallagher PM et. al. (1998) Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.

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79.

Chao CL et. al. (1999) The graded effect of hyperhomocysteinemia on the severity and extent of coronary atherosclerosis.

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80.

Peterschmitt MJ et. al. (1999) Reduction of false negative results in screening of newborns for homocystinuria.

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81.

Guttormsen AB et. al. (2001) Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.

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82.

Werstuck GH et. al. (2001) Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways.

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83.

Yap S et. al. (2001) The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.

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84.

Schnyder G et. al. (2001) Decreased rate of coronary restenosis after lowering of plasma homocysteine levels.

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85.

Yaghmai R et. al. (2002) Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.

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86.

Pullin CH et. al. (2002) Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria.

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87.

Gaustadnes M et. al. (2002) The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

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88.

Levy HL et. al. (2002) Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.

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89.

GERRITSEN T et. al. (1962) The identification of homocystine in the urine.

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90.

CARSON NA et. al. (1962) Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland.

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91.

CARSON NA et. al. (1963) HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.

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92.

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93.

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94.

None (1959) Renal abnormalities in the Marfan syndrome.

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95.

Hubmacher D et. al. (2005) Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria.

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96.

Elsaid MF et. al. () Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?

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97.

Jakubowski H et. al. (2008) Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.

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Update: 27. März 2019