RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Marciniak, Bruno A1 Dalens, Bernard J. SR Print(0) ID 58082184 T1 Ornithine Delta-Aminotransferase Deficiency T2 Syndromes: Rapid Recognition and Perioperative Implications YR 2006 FD 2006 PB The McGraw-Hill Companies PP New York, NY SN 9780071354554 LK accessanesthesiology.mhmedical.com/content.aspx?aid=58082184 RD 2024/03/29 AB Rare genetic disorder affecting mitochondrial metabolism of ornithine. It is characterized by the presence of gyrate atrophy of the retina leading to night blindness that begins in late childhood, accompanied by sharply demarcated circular areas of chorioretinal atrophy. The areas of atrophy enlarge during the second and third decades. Posterior subcapsular cataracts have been associated by the end of the second decade. Computed tomography and magnetic resonance imaging (MRI) studies demonstrated the presence of type II muscle fiber changes in large muscle groups because of hyperornithinemia-induced deficiency of high-energy creatine phosphate. Brain MRI revealed degenerative lesions in the white matter in 50% of the gyrate atrophy patients, and 70% present premature atrophic changes. Early degenerative, atrophic brain changes and abnormal EEG are features of gyrate atrophy, in addition to the well-characterized eye and muscle manifestations.