eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gyrate atrophy of choroid and retina |
| Comorbidity | C0456909|blindness |
| Sentences | 2 |
| PubMedID- 22517647 | In the liver, this enzyme connects arginine and glutamate metabolism (34), and congenital enzyme deficiency causes hyperammonemia and blindness due to gyrate atrophy of the choroid and retina (35). |
| PubMedID- 25783604 | Purpose: in humans, deficiency of ornithine-delta-aminotransferase (oat) results in progressive degeneration of the neural retina (gyrate atrophy) with blindness in the fourth decade. |
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