144: Gyrate atrofy of the choroid and retina and ornithine-ketoacid aminotransferase deficiency

摘要

In a 10 years old girl with gyrate atrofy of the choroid and retina plasma ornithine concentration was consistently elevated ranging from 1000-1250 μmol/1. The ornithine concentration of the spina fluid was similary increased. The concentration of the other amino-acids was normal in all samples. The urine showed a typical overflow aminoaciduria, with an increase in ornithine only The prenatal and postnatal history was generally uneventful. Nc clinical abnormality could be found; liver was not enlarged. Intelligence was normal. The following laboratory tests gave normal results: haematological examination, serum proteins and their electrophoretic pattern: SGOT, SGPT, LAP, γGT, bilirubin, ureum, creatinin, blood ammonia. A deficiency of ornithine keto-acid aminotransferase was found in cultured fibroblasts by radiochemical method. Pharmologic doses of Vit. B6 for 7 days and restriction of protein intake to 0.8 g/kg for 2 months did not result in normal plasma ornithine concentration. Normal ornithine concentrations were found in plasma of the parents and the healthy sibs.