Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.

@article{Takeoka2001CarbamylPS,
  title={Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.},
  author={Masanori Takeoka and Teesta B. Soman and Vivian E. Shih and Verne S. Caviness and Kalpathy S. Krishnamoorthy},
  journal={Pediatric neurology},
  year={2001},
  volume={24 3},
  pages={
          193-9
        }
}
Carbamyl phosphate synthetase I is a urea cycle enzyme. Severe deficiency of carbamyl phosphate synthetase I presents in the neonatal period as hyperammonemic encephalopathy with altered consciousness and occasional seizures after feeding begins. Episodes of altered consciousness with or without seizures and focal neurologic deficits are seen later with patients of partial carbamyl phosphate synthetase I deficiency. Fatal cerebral edema with brain herniation may develop on occasion. Three… CONTINUE READING

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