caa a22 4500 467932735 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0286-z doi (NATIONALLICENCE)springer-10.1007/s10545-006-0286-z Dietary compliance in ornithine aminotransferase deficiency [Elektronische Daten] [Lucia Santos, White Fiona, John Walter] Summary: Ornithine δ-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 μ mol/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). SSIEM and Springer, 2006 Santos Lucia Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, M27 4HA, Manchester, UK aut Fiona White Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, M27 4HA, Manchester, UK aut Walter John Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, M27 4HA, Manchester, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 240-240 0141-8955 29:1<240 2006 29 10545 https://doi.org/10.1007/s10545-006-0286-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0286-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Santos Lucia Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, M27 4HA, Manchester, UK aut NATIONALLICENCE 700 1- Fiona White Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, M27 4HA, Manchester, UK aut NATIONALLICENCE 700 1- Walter John Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, M27 4HA, Manchester, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 240-240 0141-8955 29:1<240 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer