Gyrate atrophy

Gyrate atrophy Unclear Ornithine Ornithine transaminase... 

Gyrate atrophy with omithinuria Ornithine-8-aminotransferase 2.6.1.13... 

As shown in Table 9.4, vitamin Be dependency has been reported in cases of type I primary hyperoxaluria, xanthurenic aciduria, homocystinuria, hypochromic sideroblastic anemia, gyrate atrophy with ornithinemia, and vitamin Be responsive infantile convulsions. In this last condition, the underlying defect has not been identified, but is almost certainly not impaired activity of glutamate decarboxylase. 

Gyrate atrophy of the retina 258870 Ornithine aminotransferase <1 100,000 Myopia, night blindness, progressive loss of peripheral vision ... 

A (UsorAex hyperornithinemia of the retina and choroid with gyrate atrophy and progressive degeneration is due to the deficiency of the enzyme omithine-5-aminotransferase (OAT). OAT deficiency is inherited as an autosomal recessive disorder and illustrates the metabolic importance of ornithine, a nonprotein amino acid (Chapter 17). Ornithine participates either as a substrate or a product of five enzymatic reactions. Two biochemical mechanisms have been proposed to explain the pathophysiology of gyrate atrophy of the choroid and the retina. One is that a high ornithine concentration causes reduced formation of... 

Behrens BW, Konig U, Schroder K, Hausmann I, Langenbeck U. 1982. Biochemical and therapeutic studies in a case of gyrate atrophy. Von Graefe s Arch Klin Ejq) Ophthalmol 218 21-24. 

Brody LC, Mitchell GA, Obie C. Michaud J, Steel G, et al. 1992. Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem 267 3302-3307. 

Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. J Biol Chem 264 17432-17436. 

McClatchey AI, Kaufman DL, Berson EL, Tobin AJ, Shih VE, et al. 1990. Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. Am J Hum Genet 47 790-794. 

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest 81 630-633. 

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. Proc Natl Acad Sci USA 86 197-201. 

O Donnell JJ, Vannas Sulonen K, Shows TB, Cox DR. 1988. Gyrate atrophy of the choroid and retina Assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7. Am J Hum Genet 43 922-928,... 

Ramesh V, McClatchey Al, Ramesh N, Benoit LA, Berson EL, et al. 1988. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and-nonresponsive forms of gyrate atrophy. Proc Natl Acad Sci USA 85 5777-5780. 

Takki K, Simell O. 1974. Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. Br J Ophthalmol 58 907-916. 

Vannas-Sulonen K, Sipila I, Vannas A, Simell O, Rapola J. 1985. Gyrate atrophy of the choroid and retina. A five-year follow-up of creatinine supplementation. Ophthalmology 92 1719-1727. 

Glycogen storage diseases Gyrate atrophy of the retina Hartnup disease Heart attack... 

Bg (pyridoxine) Cornea (neovascularization) Retina (gyrate atrophy)... 

Increases may occur in a disorder called gyrate atrophy of the retina (Sipila et al., 1981), and there are less well-characterized defects involving ornithinemia (see Stanbury et al, 1983). 

Shih V E. (1973) Laboratory Techniques for the Detection of Hereditary Metabolic Disorders CRC, Boca Raton, Florida Sipila I., Simell O., and O Donnell J. ] (1981) Gyrate atrophy of the choroid and retina with hyperornithinemia Characterization of mutant liver L-ornithine 2-oxoacid aminotransferase kinetics / Chn. Invest. 67, 1805-1807... 

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