Citrullinemia Type I.
Quinonez SC, Lee KN.
Quinonez SC, et al.
2004 Jul 7 [updated 2022 Aug 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
2004 Jul 7 [updated 2022 Aug 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID: 20301631
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Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites (e.g., glutamine) result in increased ICP, increased neuromuscular tone, spasticity, ankle clonus, seizures, loss of consciousness, and death. ...The patient should be …
Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites (e.g., glutamine) result in increa …