eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Symptom | C0235031|neurological symptoms |
| Sentences | 2 |
| PubMedID- 23991083 | Patients in the terminal phase often develop encephalopathy with severe neurological symptoms such as coma and seizures . |
| PubMedID- PMC4235886 | Ornithine transcarbamylase (otc) catalyzes the formation of citrulline from carbamoyl phosphate and l-ornithine in the urea cycle, deleterious mutations in the human otc gene disrupts the formation and produces clinical hyperammonemia, which can also lead to encephalopathy with subsequent neurological symptoms or even death. |
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