Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ornithine aminotransferase deficiency

Ornithine aminotransferase deficiency is an autosomal recessive disorder caused by mutations of the OAT gene. It presents with impaired night vision that progressively develops into blindness.

Systematic

Urea cycle disorders
Argininosuccinic aciduria
Citrullinemia
Citrullinemia type 2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Ornithine aminotransferase deficiency
OAT
Ornithine carbamoyltransferase deficiency

References:

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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Update: Sept. 26, 2018