Journal of Inherited Metabolic Disease

, Volume 29, Issue 1, pp 240–240 | Cite as

Dietary compliance in ornithine aminotransferase deficiency

  • Lucia Santos
  • White J. Fiona
  • John H. Walter
Data Report


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).


Ornithine Retinal Degeneration Retinal Disease Dietary Management Dietary Compliance 
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Supplementary material

10545_2006_Article_286_MOESM1_ESM.doc (34 kb)
Table (DOC 36 KB)


  1. Peltola K, Heinonen OJ, Nanto-Salonen K, Pulkki K, Simell O (2000) Oral lysine feeding in gyrate atrophy with hyperornithinaemia—a pilot study. J Inherit Metab Dis 23: 305–307.CrossRefPubMedGoogle Scholar
  2. Santinelli R, Costagliola C, Tolone C, et al (2004) Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroids and retina: a twenty-six-year follow-up. J Inherit Metab Dis 27: 187–196.CrossRefPubMedGoogle Scholar

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • Lucia Santos
    • 1
  • White J. Fiona
    • 1
  • John H. Walter
    • 1
  1. 1.Willink Biochemical Genetics UnitRoyal Manchester Children’s HospitalManchesterUK

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