Gyrate atrophy of the choroid and retina: Lymphocyte ornithine-δ- aminotransferase activity in different mutations and carriers

Pediatric Research

Volumn 44, Issue 3, 1998, Pages 381-385

  Heinänen, Kaarlo ^a   Näntö Salonen, Kirsti ^a   Leino, Lasse ^a   Pulkki, Kari ^a   Heinonen, Olli ^a   Valle, David ^b   Simell, Olli ^a  

^a UNIVERSITY OF TURKU   (Finland)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE OXOACID AMINOTRANSFERASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHOROID GYRATE ATROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REACTION TIME; RETINA GYRATE ATROPHY; SCHOOL CHILD; SKIN FIBROBLAST;

EID: 0344157433     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199809000-00019     Document Type: Article

References (25)

1. Valle D, Simell O 1995 The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 1147-1185
2. Wang T, Lawler AM, Steel G, Sipilä I, Milam AH, Valle D 1995 Mice lacking ornithine-δ-aminotransferase have paradoxal neonatal hypo-ornithinemia and retinal degeneration. Nat Genet 11:185-190
3. Valle D, Boison A, Jezyk J, Aguirre G 1981 Gyrate atrophy of the choroid and retina in a cat. Invest Ophthalmol Vis Sci 20:251-255
4. Shih VE, Berson EL, Gargiulo M 1981 Reduction of hyperornithinemia with a low protein, low arginine diet and pyridoxine in patients with a deficiency of ornithine- ketoacid transaminase activity and gyrate atrophy of the choroid and retina. Clin Chim Acta 113:243-251
5. 6. Am J Hum Genet 32:529-541
6. 6-responsive and -nonresponsive forms of gyrate atrophy. Proc Natl Acad Sci USA 85:3777-3780
7. Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, Derkalonstian V, Kaiser-Kupfer MI, Valle D1 1988 An initiator codon mutation in ornithine-δ- transaminase causing gyrate atrophy. J Clin Invest 81:630-633
8. Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G 1992 Strand-separating conformational polymorphism (SSCP) analysis: efficacy of detec- tion point mutations in the human ornithine-δ-transaminase gene. Genomics 13:398-394
9. Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert M-F, Kaiser-Kupfer MI, Valle D 1992 Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem 267:3302-3307
10. Kaiser-Kupfer MI, Caruso RC, Valle D 1991 Gyrate atrophy of the choroid and retina: chronic reduction of ornithine slows retinal degeneration. Arch Ophthalmol 109:1539-1548
11. Sipilä I, Rapola J, Simell O, Vannas A 1981 Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina. N Engl J Med 304:867-870
12. Vannas-Sulonen K, Sipilä I, Vannas A, Simell O, Rapola J 1985 Gyrate atrophy of the choroid and retina. A five-year follow-up of creatine supplementation. Ophthalmology 92:1719-1727
13. Parvy P, Bardet J, Rabier D, Kamoun P 1995 A scheme for the interpretation of primary and secondary disturbances of plasma and urinary amino acid profiles. A possible way to an expert system. Clin Chim Acta 235:1-10
14. O'Donnel JJ, Sandman RP, Martin SR 1978 Assay of ornithine aminotransferase by high performance liquid chromatography. Anal Biochem 90:41-46
15. Shih VE, Berson EL, Mandell R, Schmidt SY 1978 Ornithine-ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. Am J Human Genet 30:174-179
16. Valle D, Kaiser-Kupfer MI, Del Valle LA 1977 Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. Proc Natl Acad Sci USA 74:5159-5161
17. Sipilä I, Simell O, O'Donnel JJ 1981 Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics. J Clin Invest 67:1805-1807
18. Peraino C, Pitot HC 1963 Ornithine-δ-transaminase in the rat. I. Assay and some general properties. Biochim Biophys Acta 73:222-231
19. Strecker HJ 1965 Purification and properties of rat liver ornithine δ-transaminase. J Biol Chem 240:1225-1230
20. Kim H-R, Rho H-W, Park J-W, Park B-H, Kim J-S, Lee M-W 1994 Assay of ornithine aminotransferase with ninhydrin. Anal Biochem 223:205-207
21. Phang JM, Downing SJ, Valle D 1973 A radioisotopic assay for ornithine-δ- transaminase. Anal Biochem 55:272-277
22. Wong PT, McGeer EG, McGeer PL 1981 A sensitive radiometric assay for ornithine aminotransferase: regional and subcellular distributions in rat brain. J Neurochem 36:501-505
23. Mueckler M, Merril MJ, Pitot HC 1983 Transcriptional control of ornithine aminotransferase synthesis in rat kidney by estrogen and thyroid hormone. J Biol Chem 258:6109-6114
24. Mueckler M, Moran S, Pitot HC 1984 Transcriptional control of ornithine aminotransferase synthesis in rat kidney by estrogen and thyroid hormone. J Biol Chem 259:2302-2305
25. Fagan RJ, Sheffield WP, Rozen R 1989 Regulation of ornithine aminotransferase in relinoblastomas. J Biol Chem 264:20513-20517