RESUMO
Ornithine delta-aminotransferase (OAT) deficiency (McKusick 258870) is associated with hyperornithinaemia, thought to be the cause of the progressive retinal degeneration that occurs in this disorder. For the large majority of cases unresponsive to the co-factor pyridoxine, treatment is based on reducing ornithine plasma levels below 400 micromol/L with an arginine-restricted diet. This has been shown to slow the progression of retinal disease. (Santinelli et al 2004). In Table 1 we present our experience in the dietary management of 12 patients (7 female) from 8 families. Compliance was defined as good, intermediate or poor according to plasma ornithine levels. Only one patient could be categorized as a good complier, 5 were intermediate, and 6 were poor. The age at start of treatment was the most important factor as regards ability to comply with diet. Our study emphasizes the difficulty with dietary treatment and need for early diagnosis. For the older patients, alternative treatments such as the use of oral lysine to increase renal losses of ornithine need to be investigated further (Peltola et al 2000).
