Abstract
A thirty-six years old man from an inbred family with the typical clinical picture of Atrophia gyrata chorioideae et retinae was found to have hyperornithinemia and a partial deficiency of ornithin-ketoacid-transaminase activity. The residual activity was stimulated in vitro by high concentrations of pyridoxal phosphate. We have initiated a therapeutic study with vitamine B6 per os accordingly.
Comparitively low dosis may be sufficient for long term treatment. The necessity to start therapy early in life is emphazised. Possible mechanisms of the pathogenesis of Atrophia gyrata are discussed.
Zusammenfassung
Bei einem 36jährigen Patienten aus einer Familie mit mehrfachen Verwandtenehen wurde eine Atrophia gyrata chorioideae et retinae sowie eine Hyperornithinämie und ein Mangel an Ornithinketotransaminase festgestellt. Die Rest-aktivität dieses Enzyms wurde in vitro durch hohe Dosen von Pyridoxalphosphat stimuliert. Eine Therapie mit Vitamin B6 per os wurde daraufhin eingeleitet.
Geringe Dosen scheinen für eine Langzeitbehandlung ausreichend. Auf die Wichtigkeit einer frühzeitigen Therapie wird hingewiesen. Überlegungen zur Pathogenese der Atrophia gyrata werden dargelegt.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bickel H, Feist D, Müller H, Quadbeck G (1968) Ornithinämie — eine weitere Aminosäurestoffwechselstörung mit Hirnschädigung. Dtsch Med Wochenschr 93:2247–2251
Christensen HN, Cullen AM (1967) Effects of non-metabolizable analogs on the distribution of amino-acids in the rat. Biochem Biophys Acta 150:237–252
Franceschetti A, Dieterle P (1957) Die differentialdiagnostische Bedeutung des ERG bei tapeto-retinaler Degeneration. Bibl Ophthalmol (Basel) 48:161–182
Francois F, Verriest G, De Rouck A (1956) Les fonctions visuelles dans le dégénérescenses tapeto-étiniennes. Ophthalmologica (Basel) 131:26–31
Jaeger W, Kettler J, v Hilsdorf C, Lutz P (1977) Gibt es verschiedene Typen der Atrophia gyrata chorioideae et retinae? Ber Zusammenkunft Dtsch Ophthalmol Ges 75: 655–663
Kaiser-Kupfer MI, De Monasterio FM, Valle D, Walser M, Brusilow S (1980) Gyrate atrophy of the choroid and retina: Improved visual function following reduction of plasma ornithine by diet. Science 210:1128–1131
Katunuma N, Matsuda Y, Tomino J (1964) Studies on ornithine, ketoacid transaminase. J Biochem (Tokyo) 56:499–503
Kennaway NG, Weleber RG, Buist NRM (1980) Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. Am J Hum Genet 32:529–541
McCulloch JC, Marliss EB (1975) Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations. Trans Am Ophthalmol Soc 73:153–171
McInnes RR, Arshinoff SA, Bell L, Marliss EB, McCulloch JC (1981) Hyperornithinaemia and gyrate atrophy of the retina: Improvement of vision during treatment with a low-arginine diet. Lancet 1:514–517
O'Donnell JJ, Sandman RP, Martin SR (1978) Assay of ornithine aminotransferase by high-performance liquid chromatography. Anal Biochem 90:41–46
O'Donnell JJ, Sandman RP, Martin SR (1978) Gyrate atrophy of the retina: inborn error of 1-ornithine: 2-oxoacid aminotransferase. Science 200:200–201
Perry TL, Hansen S (1969) Technical pitfalls leading to errors in the quantitation of plasma amino acids. Clin Chim Acta 25:53–58
Raine DN (1975) The treatment of inherited metabolic disease. Medical and Technical Publishing Co. Ltd. Lancaster
Rosenberg LE (1976) Vitamin-responsive inherited metabolic disorders. In: Harris H, Hirschhorn K (eds) Advances in Human Genetics. 6:1–74
Shih VE, Berson EI, Mandell R, Schmidt SY (1978) Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. Am J Hum Genet 30:174–179
Sipilä I, O'Donnell JJ, Simell O (1981) Kinetic mutation of liver L-ornithine: 2-oxoacid amino transferase in gyrate atrophy of the choroid and retina. J Inherited Metab Dis 4: in press
Sipilä I, Simell O, Rapola J, Vannas A (1981) Creatine treatment of gyrate atrophy of the choroid and retina with hyperornithinemia. J Inherited Metab Dis 4: in press
Tada K, Saito T, Omura K (1981) Hyperornithinemia associated with gyrate atrophy of the choroid and retina: In vivo and in vitro response to vitamin B6. J Inherited Metab Dis 4: 61–62
Takki K (1974) Gyrate atrophy of the choroid and retina associated with hyperornithinemia Br J Ophthalmol 58:3–23
Takki K, Simell O (1974) Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinemia. Br J Ophthalmol 58:907–916
Takki K, Simell O (1976) Gyrate atrophy of the choroid and retina with hyperornithinemia. Birth Defects 12:373–384
Trijbels JMF, Sengers RCA, Bakkeren JAJM, De Kort AF, Deutman AF (1977) L-ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyper-ornithinemia and gyrate atrophy of the choroid and retina. Clin Chim Acta 79:371–377
Valle D, Kaiser-Kupfer MI, Del Valle LA (1977) Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. Proc Nat Acad Sci (Wash) 74:5159–5161
Valle D, Walser M, Brusilow SW (1980) Gyrate atrophy of the choroid and retina. J Clin Invest 65:371–378
Weleber RG, Kennaway NG, Buist NRM (1978) Vitamin B6 in management of gyrate atrophy of choroid and retina. Lancet 2:1213
Author information
Authors and Affiliations
Additional information
Part of the results was obtained during medical thesis work of U.K.
Rights and permissions
About this article
Cite this article
Behrens-Baumann, W., König, U., Schröder, K. et al. Biochemical and therapeutical studies in a case of atrophia gyrata. Graefe's Arch Clin Exp Ophthalmol 218, 21–24 (1982). https://doi.org/10.1007/BF02134094
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF02134094