[Gyrate atrophy of the choroid and retina in children. Apropos of 2 cases].
The authors report two familial cases of algerian children with a hyperornithinaemia and a gyrate atrophy. Blood ornithine was 10 to 20 above the normal, lysine and glutamic acid were slightly decreased. Urinary ornithine levels were very high. The enzymatic activity of the ornithine keto-acid transaminase was not detectable in the patients skin fibroblasts. It was more than half the normal value in the children's mother. Owing to a better knowledge of the biochemical abnormalities a poor protein, poor arginine and more recently proline added diet has been recommended in order to alter the development of ocular lesions. Unfortunately the authors did not have the opportunity of following the children long enough to assess the result of this treatment.
D000462:Algeria / Q000208:ethnology; D001284:Atrophy / Q000235:genetics / Q000378:metabolism; D002648:Child; D002829:Choroid / Q000473:pathology*; D005602:France; D006801:Humans; D008297:Male; D009952:Ornithine / Q000097:blood* / Q000378:metabolism; D009953:Ornithine-Oxo-Acid Transaminase / Q000378:metabolism; D012160:Retina / Q000473:pathology*
D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase
Atrophie gyrée de la choroïde et de la rétine chez l'enfant. A propos de deux observations.