Enzyme or protein defect
Carbamoyl phosphate synthetase I
Accumulates or becomes deficient
Ammonia; orotic acid NORMAL/LOW
Key features
Neonatal hyperammonaemia, lethargy, coma
Management
Nitrogen scavengers; N-carbamylglutamate in NAGS deficiency
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Ammonia storm: unmasking a suspected rare proximal urea cycle disorder in adulthood.
Vikhe V, Shaik MH, Khaire P, Patil R, Chakraborty A. · 2026-06-12
unreviewed -
2
Application of Induced Pluripotent Stem Cells (iPSCs) in Hereditary and Viral Diseases of the Liver: Modeling and Treatment.
Andriianov V, Malyutina A, Panferov E, Karabelsky A, Ivanov R, Minskaia E, Reshetnikov V. · 2025-09-26
open access unreviewed -
3
Gastric Bypass Associated Hyperammonemia (GaBHA): A Case Study, Scoping Review of the Literature, and Proposed New Pathophysiologic Mechanism.
Fenves AZ, Hatipoglu D, Robinson JC, Rothkopf MM. · 2025-08-27
open access unreviewed -
4
Experience with the mTOR Inhibitor Everolimus in Pediatric Liver Graft Recipients.
Wehming M, Krebs-Schmitt D, Briem-Richter A, Hegen B, Brinkert F, Fischer L, Grabhorn E. · 2023-02-13
cited 4× open access unreviewed -
5
Dietary <i>N</i>-carbamylglutamate supplementation improves ammonia tolerance of juvenile yellow catfish <i>Pelteobagrus fulvidraco</i>.
Feng D, Yang Z, Li M. · 2023-04-24
cited 4× open access unreviewed -
6
Mitochondrial disorders.
Kanungo S, Morton J, Neelakantan M, Ching K, Saeedian J, Goldstein A. · 2018-12-01
cited 56× unreviewed -
7
Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets.
Shi D, Caldovic L, Tuchman M. · 2018-06-12
cited 25× open access unreviewed - 8
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9
Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine.
Sheng XQ, Wang YC. · 2017-03-02
cited 1× unreviewed -
10
Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity.
Maramattom BV, Raja R, Balagopal A. · 2016-07-01
cited 4× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.