PedAM
Pediatric Disease Annotations & Medicines
| Disease | hyperammonemia |
| Phenotype | C0006112|metabolic encephalopathy |
| Sentences | 2 |
| PubMedID- 21153419 | This last condition is in most cases dominated in the neonatal period by a metabolic encephalopathy "intoxication type" with severe hyperammonemia and ketoacidosis. |
| PubMedID- 21070677 | The classic presentation is males with hemizygous null mutations with no residual enzyme activity who present in the neonatal period with progressive metabolic encephalopathy due to hyperammonemia with death in the first week of life. |
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