Treatment may include vitamin B6, lysine or dramatic dietary change to minimise arginine from patients diet.

Research has indicated that these treatments may be somewhat effective in lowering ornithine blood concentration levels in some patients, either in combination or individually.

Ophthalmological findings in affected individuals include constricted visual fields, posterior subcapsular cataracts (can begin in late teens), elevated dark adaptation thresholds and decreased or absent electroretinographic responses.

These individuals present with hyperammonemia, poor feeding, failure to thrive and increased excretion of orotic acid.

Enzyme assays to measure the activity of ornithine aminotransferase can be performed from fibroblasts or lymphoblasts for confirmation or during the neonatal period when the results of biochemical testing is unclear.