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Gyrate atrophy with hyperornithinaemia: different types of responsiveness to vitamin B6.
  1. S Hayasaka,
  2. T Saito,
  3. H Nakajima,
  4. Y Takaku,
  5. T Shiono,
  6. K Mizuno,
  7. K Ohmura and
  8. K Tada


    Three cases of Japanese patients with gyrate atrophy of the choroid and retina with hyperornithinaemia were studied clinically and biochemically. The types of disease differed in responsiveness to vitamin B6. In-vivo responsiveness to vitamin B6 was correlated with in-vitro data. It is suggested that the in-vitro examination of the influence of pyridoxal phosphate on ornithine ketoacid transaminase activity in cultured fibroblasts may be useful in ascertaining the efficacy of vitamin B6 treatment in gyrate atrophy. In addition the early development of the fundus lesions was observed in one case (case 1), and the ciliary body abnormality and chorioretinal atrophy were noted in another (case 3).

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