Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Ornithine-Aminotransferase-Mangel

Der Ornithine-Aminotransferase-Mangel ist eine autosomal rezessive Erkrankung, die durch Mutationen des AOT-Gens ausgelöst wird. Sie manifestiert sich in zunehmender Nachtblindheit,die bis zu einer völligen Erblindung führen kann.

Gliederung

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

Referenzen:

1.

Brody LC et. al. (1992) Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

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2.

Ramesh V et. al. (1988) The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.

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3.

Mitchell GA et. al. (1988) An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

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4.

Barrett DJ et. al. (1987) Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

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5.

Valle D et. al. (1977) Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.

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6.

Sipilä I et. al. (1979) Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle.

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7.

O'Donnell JJ et. al. (1978) Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.

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8.

Shih VE et al. (1978) Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

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9.

Stoppoloni G et. al. (1978) Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case.

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10.

Kennaway NG et. al. (1977) Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts.

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11.

Kennaway NG et. al. (1989) Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.

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12.

Shih VE et. al. (1988) Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.

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13.

Wirtz MK et. al. (1985) Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina.

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14.

Simell O et. al. (1973) Raised plasma-ornithine and gyrate atrophy of the choroid and retina.

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15.

Takki K et. al. (1974) Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.

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16.

François J et. al. (1966) [Apropos of gene carriers of Fuch's atrophia gyrata choroideae et retinae].

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17.

McInnes RR et. al. (1981) Hyperornithinaemia and gyrate atrophy of the retina: improvement of vision during treatment with a low-arginine diet.

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18.

Fukuda K et. al. (1983) Free amino acid concentrations in blood cells of two brothers with gyrate atrophy of the choroid and retina with hyperornithinaemia.

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19.

Kaiser-Kupfer M et. al. (1983) Cataract in gyrate atrophy: clinical and morphologic studies.

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20.

Sipilä I et. al. (1981) Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.

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21.

Valle D et. al. (1980) Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet.

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22.

Kennaway NG et. al. (1980) Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.

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23.

Sipilä I et. al. (1980) Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.

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24.

Kaiser-Kupfer MI et. al. (1980) Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet.

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25.

Wang T et. al. (1995) Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.

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26.

Valtonen M et. al. (1996) Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow-field magnetic resonance imaging and computed tomography.

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27.

Valtonen M et. al. (1999) Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.

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28.

Wang T et. al. (2000) Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.

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29.

Caruso RC et. al. (2001) Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement.

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30.

Kaiser-Kupfer MI et. al. (2002) Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.

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31.

Peltola KE et. al. (2002) Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia.

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32.

FRANCOIS J et. al. (1960) [Conductors of the gene of Fuchs' atrophia gyrata chorioideae et retinae (Alder's anomaly)].

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