| First Author | Palanza KM | Year | 2016 |
| Journal | J Inborn Errors of Metab and Screening | Mgi Jnum | J:237185 |
| Mgi Id | MGI:5811568 | Citation | Palanza KM, et al. (2016) Auxotrophy-Based detection of Hyperornithinemia in mouse blood and urine. J Inborn Errors of Metab and Screening |
| abstractText | Gyrate atrophy of the choroid and retina (GACR) is a hereditary form of progressive blindness caused by homozygosity for loss-of-function mutations in the ornithine aminotransferase gene (Oat). The high levels of circulating ornithine that lead to ophthalmic symptoms in young adults are also displayed by 2 ornithine aminotransferase (OAT)-deficient mouse models of GACR. Here, we have developed an inexpensive and quantitative bacteria-based test for detecting hyperornithinemia in blood or urine samples from these mutant mice, a test that we suggest could be used to facilitate the identification and treatment of OAT-deficient humans before the onset of visual impairment. |
