Science. 1978 Apr 14;200(4338):200-1.

Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.

Abstract

Cultured fibroblasts from a patient with gyrate atrophy of the retina do not convert L-ornithine, uniformly labeled with carbon-14, to proline. This metabolic block is caused by deficient L-ornithine:2-oxoacid aminotransferase activity in the patient. Her heterozygote father has intermediate activity of this enzyme.

PMID:: 635581; [PubMed - indexed for MEDLINE]

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Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina. [Biochem Biophys Res Commun. 1977]
Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina.
O'Donnell JJ, Sandman RP, Martin SR. Biochem Biophys Res Commun. 1977 Nov 21; 79(2):396-9.
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. [Am J Hum Genet. 1978]
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
Shih VE, Berson EL, Mandell R, Schmidt SY. Am J Hum Genet. 1978 Mar; 30(2):174-9.
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. [Proc Natl Acad Sci U S A. 1977]
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
Valle D, Kaiser-Kupfer MI, Del Valle LA. Proc Natl Acad Sci U S A. 1977 Nov; 74(11):5159-61.
Review Gyrate atrophy of the choroid and retina. Approaches to therapy. [Int Ophthalmol. 1981]
Review Gyrate atrophy of the choroid and retina. Approaches to therapy.
Weleber RG, Kennaway NG, Buist NR. Int Ophthalmol. 1981 Aug; 4(1-2):23-32.
Review [Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease]. [Duodecim. 1994]
Review [Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease].
Sipilä I, Valle D, Mitchell GA, Brody LC. Duodecim. 1994; 110(7):681-6.

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Cited by 6 PubMed Central articles

The plasma flux and oxidation rate of ornithine adaptively decline with restricted arginine intake. [Proc Natl Acad Sci U S A. 1994]
The plasma flux and oxidation rate of ornithine adaptively decline with restricted arginine intake.
Castillo L, Sánchez M, Chapman TE, Ajami A, Burke JF, Young VR. Proc Natl Acad Sci U S A. 1994 Jul 5; 91(14):6393-7.
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. [Am J Hum Genet. 1980]
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Kennaway NG, Weleber RG, Buist NR. Am J Hum Genet. 1980 Jul; 32(4):529-41.
Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6. [Br J Ophthalmol. 1981]
Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.
Hayasaka S, Saito T, Nakajima H, Takaku Y, Shiono T, Mizuno K, Ohmura K, Tada K. Br J Ophthalmol. 1981 Jul; 65(7):478-83.

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