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 · fetched just now · sorted by publication date
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1
Targeted delivery of mRNA to immune cells for <i>in vivo</i> cell therapy.
Wang D, Li Y, Deng J, Li M, Wu LP. · 2026-08-12
open access unreviewed -
2
Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.
Stolwijk NN, Penninx BMF, Bosch AM, Langeveld M, Salomons GS, Hollak CEM, Essential Nutritional Therapy Produ… · 2026-11-01
open access unreviewed -
3
<i>S</i>-Nitrosylation of glycogen phosphorylase regulates nuclear glycogenolysis and is impaired in metabolic liver disorders.
Soria LR, D'Alessio AM, Casertano V, Polishchuk E, Pasquadibisceglie A, Boffa I, Diana A, De Cegli R, De Stef… · 2026-10-02
open access unreviewed -
4
Overcoming hepatic tropism: Precision engineering of lipid nanoparticles for extrahepatic RNA delivery.
Liu Y, Guo X, Hu Q, Gan C, Nie S, Xiang J, Liu Y, Zou J, Wu X, Li C, Tang Y. · 2026-08-18
open access unreviewed -
5
RNA therapeutics: current status and future directions.
Yang B, Sedano MJ, Perez K, Vijayaraghavan M, Reid VA, Yallapu MM, Chauhan SC, Dhandayuthapani S, Ramos EI, G… · 2026-09-24
open access unreviewed -
6
Ultrasound findings associated with neonatal acute liver failure secondary to gestational alloimmune liver disease: A case series
Ravanbakhsh N, Upton A, Huang C, Galván N, Goss J, Harpavat S, Hernandez J. · 2026-09-24
open access unreviewed -
7
mRNA Therapeutics Beyond Infectious Diseases: Expanding Therapeutic Applications and Future Perspectives.
Dejen GM. · 2026-09-01
open access unreviewed -
8
The fluctuating Connectome: Graph-Theoretical dissection of metabolic mimicry in Late-Onset ornithine transcarbamylase deficiency.
Bragatti JA, Grigoletto L. · 2026-09-04
unreviewed -
9
A brief history of gene therapy for ornithine transcarbamylase deficiency.
Breilyn MS, Konczal LL, Harding CO. · 2026-09-06
unreviewed -
10
Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.
Siri B, Martinelli D, Carrozzo R, Boenzi S, Cairoli S, Rizzo C, Giovanniello T, Häberle J, Dionisi-Vici C. · 2026-09-01
cited 1× unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.