Enzyme or protein defect
Ornithine transcarbamylase
Accumulates or becomes deficient
Ammonia; orotic acid HIGH
Key features
Commonest urea cycle defect; hyperammonaemia, vomiting, encephalopathy; low BUN, no megaloblastic anaemia
Management
Low-protein diet, benzoate/phenylbutyrate, arginine/citrulline
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 · from cache · sorted by publication date
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1
Rapamycin nanoparticles mitigate anti-AAV antibody formation in a mouse model of ornithine transcarbamylase deficiency.
Vicidomini A, Boisgerault F, Romano G, Guarnaccia C, Vidal P, Collaud F, Soria LR, de Sabbata G, Tedesco N, L… · 2026-06-19
unreviewed -
2
Functional editing of the OTC locus by targeted integration with phenotype correction and restoration of endogenous expression patterns.
Ginn SL, Doroudian F, Christina S, Chan OPY, Lucas CW, Zhu E, Yang SF, Devanapalli B, Klein AH, Scott S, Vita… · 2026-07-09
unreviewed -
3
Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.
Wada Y, Furujo M, Kashimada K, Hamazaki T, Nyuzuki H, Ichimoto K, Kakiuchi T, Matsumoto S, Watanabe Y, Ono C,… · 2026-06-14
open access unreviewed -
4
Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.
Buraniqi E, Lee HT, Sen K, Chapman KA, Grant CL, Chen WL, Gropman AL. · 2025-11-12
unreviewed -
5
Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.
Lo RS, Cromie GA, Tang M, Sirr A, Caldovic L, Morizono H, Ah Mew N, Gropman A, Dudley AM. · 2026-06-17
open access unreviewed -
6
Reprogramming innate immunity through viral interference: A double-edged strategy for enhancing and containing gene therapies.
Liu Z, Song S. · 2026-03-19
cited 1× open access unreviewed -
7
Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.
Coughlin CR, Barber J, Murali CN, Members of the Urea Cycle Disorders Consortium (UCDC), Wilkening G. · 2026-05-01
open access unreviewed -
8
Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform.
Feierman ER, Whittaker MN, Quigley A, Brooks DL, McVeigh P, Nan AX, Hsu A, Said H, Soliman OY, Giovenco R, Da… · 2026-03-31
cited 1× unreviewed -
9
Letter to the Editor: 'Rare but relevant: Genetic liver disease in the general medical setting'.
McCarron EP. · 2026-03-07
open access unreviewed -
10
Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder
Singin B, Donbaloğlu Z, Barsal Çetiner E, Bedel A, Çetin K, Akcan Paksoy B, Kalkan T, Akbaş H, Ünver Tuhan H,… · 2025-03-19
cited 2× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.