Research & Literature

Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.

Alameri M, Shakra M, Alsaadi T

Journal of medical case reports 2015; (9()):267 doi:10.1186/s13256-015-0741-2.

Report of 3 Patients With Urea Cycle Defects Treated With Related Living-Donor Liver Transplant.

Özçay F, Barış Z, Moray G, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2015; (13 Suppl 3()):126-30 doi:10.6002/ect.tdtd2015.P69.

Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency.

Laemmle A, Stricker T, Häberle J

JIMD reports 2017; (31()):11-14 doi:10.1007/8904_2016_551.

[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].

Gong ZW, Han LS, Ye J, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2016; (54(6)):437-40 doi:10.3760/cma.j.issn.0578-1310.2016.06.010.

Citrulline for urea cycle disorders in Japan.

Tanaka K, Nakamura K, Matsumoto S, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2017; (59(4)):422-426 doi:10.1111/ped.13163.

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.

Husson MC, Schiff M, Fouilhoux A, et al.

Orphanet journal of rare diseases 2016; (11(1)):127 doi:10.1186/s13023-016-0513-0.

AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.

Wang L, Bell P, Morizono H, et al.

Molecular genetics and metabolism 2017; (120(4)):299-305 doi:10.1016/j.ymgme.2017.02.011.

Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.

Kido J, Matsumoto S, Momosaki K, et al.

Pediatric transplantation 2017; (21(6)) doi:10.1111/petr.12987.

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Berry SA, Longo N, Diaz GA, et al.

Molecular genetics and metabolism 2017; (122(3)):46-53 doi:10.1016/j.ymgme.2017.09.002.

Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives.

Peña-Quintana L, Llarena M, Reyes-Suárez D, Aldámiz-Echevarria L

Patient preference and adherence 2017; (11()):1489-1496 doi:10.2147/PPA.S136754.

Acute Illness Protocol for Urea Cycle Disorders.

Rodan LH, Aldubayan SH, Berry GT, Levy HL

Pediatric emergency care 2018; (34(6)):e115-e119 doi:10.1097/PEC.0000000000001298.

Prenatal treatment of ornithine transcarbamylase deficiency.

Wilnai Y, Blumenfeld YJ, Cusmano K, et al.

Molecular genetics and metabolism 2018; (123(3)):297-300 doi:10.1016/j.ymgme.2018.01.004.

Testing for Inborn Errors of Metabolism.

Kwon JM

Continuum (Minneapolis, Minn.) 2018; (24(1, Child Neurology)):37-56 doi:10.1212/CON.0000000000000563.

Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.

Summar ML, Mew NA

Pediatric clinics of North America 2018; (65(2)):231-246 doi:10.1016/j.pcl.2017.11.004.

The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.

Chongsrisawat V, Damrongphol P, Ittiwut C, et al.

Gene 2018; (679()):377-381 doi:10.1016/j.gene.2018.09.026.

Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.

Li S, Cai Y, Shi C, et al.

Medical science monitor : international medical journal of experimental and clinical research 2018; (24()):7431-7437 doi:10.12659/MSM.911295.

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.

Buerger C, Garbade SF, Dietrich Alber F, et al.

Journal of inherited metabolic disease 2019; (42(2)):243-253 doi:10.1002/jimd.12013.

Bizarre behavior and decreased level of consciousness in an adult patient.

van Son J, Rietbroek RC, Vaz FM, Hollak CEM

The Netherlands journal of medicine 2019; (77(1)):25-28.

[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency].

Liu N, Feng Y, Jiang M, Kong X

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(2)):106-109 doi:10.3760/cma.j.issn.1003-9406.2020.02.002.

Formulation and Clinical Evaluation of Sodium Benzoate Oral Solution for the Treatment of Urea Cycle Disorders in Pediatric Patients.

Maines E, Urru SAM, Burri E, et al.

AAPS PharmSciTech 2020; (21(3)):100 doi:10.1208/s12249-020-01642-y.

Clinical and genetic analysis of five Chinese patients with urea cycle disorders.

Zheng Z, Lin Y, Lin W, et al.

Molecular genetics & genomic medicine 2020; (8(7)):e1301 doi:10.1002/mgg3.1301.

Continuous Venovenous Hemodiafilteration for Extremely High Ammonia Levels in Methyl Malonic Acidemia.

Ganesh R, Rajendran S, Arunkumar S, et al.

Indian journal of pediatrics 2021; (88(3)):272-273 doi:10.1007/s12098-020-03344-6.

Cause for Confusion: Noncirrhotic Hyperammonemic Encephalopathy.

Kalra A, Norvell JP

Clinical liver disease 2020; (15(6)):223-227 doi:10.1002/cld.929.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

Posset R, Garbade SF, Gleich F, et al.

Scientific reports 2020; (10(1)):11948 doi:10.1038/s41598-020-67496-3.

Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy.

Mattke AC, Shikata F, McGill J, et al.

JIMD reports 2020; (55(1)):12-14 doi:10.1002/jmd2.12135.

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study.

Anderson AA, Gropman A, Le Mons C, et al.

Frontiers in neurology 2020; (11()):809 doi:10.3389/fneur.2020.00809.

Late-onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults.

Hidaka M, Higashi E, Uwatoko T, et al.

Acute medicine & surgery 2020; (7(1)):e565 doi:10.1002/ams2.565.

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Staretz-Chacham O, Daas S, Ulanovsky I, et al.

Journal of inherited metabolic disease 2021; (44(3)):606-617 doi:10.1002/jimd.12331.

[Consensus on diagnosis and treatment of ornithine trans-carbamylase deficiency].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2020; (49(5)):539-547 doi:10.3785/j.issn.1008-9292.2020.04.11.

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Lu D, Han F, Qiu W, et al.

Orphanet journal of rare diseases 2020; (15(1)):340 doi:10.1186/s13023-020-01606-2.

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Ortigoza-Escobar JD

Frontiers in neurology 2020; (11()):582160 doi:10.3389/fneur.2020.582160.

Multimodal imaging in urea cycle-related neurological disease - What can imaging after hyperammonemia teach us?

Sen K, Whitehead MT, Gropman AL

Translational science of rare diseases 2020; (5(1-2)):87-95 doi:10.3233/TRD-200048.

Management of late onset urea cycle disorders-a remaining challenge for the intensivist?

Redant S, Empain A, Mugisha A, et al.

Annals of intensive care 2021; (11(1)):2 doi:10.1186/s13613-020-00797-y.

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.

Kumar RD, Burrage LC, Bartos J, et al.

Molecular genetics and metabolism reports 2021; (26()):100706 doi:10.1016/j.ymgmr.2020.100706.

Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.

Toquet S, Spodenkiewicz M, Douillard C, et al.

Journal of inherited metabolic disease 2021; (44(5)):1199-1214 doi:10.1002/jimd.12403.

Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency.

Kazmierski D, Sharma N, O'Leary K, Ochieng P

BMJ case reports 2021; (14(5)) doi:10.1136/bcr-2020-241429.

Status epilepticus secondary to hyperammonaemia: a late presentation of an undiagnosed urea cycle defect.

Beddoes P, Nerone G, Tai C

BMJ case reports 2021; (14(5)) doi:10.1136/bcr-2020-238023.

In vivo somatic cell base editing and prime editing.

Newby GA, Liu DR

Molecular therapy : the journal of the American Society of Gene Therapy 2021; (29(11)):3107-3124 doi:10.1016/j.ymthe.2021.09.002.

The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study.

Yeowell G, Burns DS, Fatoye F

Journal of patient-reported outcomes 2021; (5(1)):110 doi:10.1186/s41687-021-00387-x.

Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.

Santamaria R, Ballester M, Garcia-Llorens G, et al.

Scientific reports 2022; (12(1)):2308 doi:10.1038/s41598-022-06184-w.

Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium.

Sysák R, Brennerová K, Krlín R, et al.

Diagnostics (Basel, Switzerland) 2022; (12(2)) doi:10.3390/diagnostics12020415.

Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression.

Wang L, Warzecha CC, Kistner A, et al.

Molecular therapy. Methods & clinical development 2022; (24()):292-305 doi:10.1016/j.omtm.2022.01.007.

Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature.

Dalsania N, Kundu S, Patti RK, et al.

Journal of investigative medicine high impact case reports 2022; (10()):23247096221101855 doi:10.1177/23247096221101855.

Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation.

Eguchi H, Kakiuchi T, Nishi M, et al.

Frontiers in pediatrics 2022; (10()):898531 doi:10.3389/fped.2022.898531.

Ornithine transcarbamylase deficiency: A diagnostic odyssey.

Knerr I, Cassiman D

Journal of inherited metabolic disease 2022; (45(4)):661-662 doi:10.1002/jimd.12530.

Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report.

Fu XH, Hu YH, Liao JX, et al.

World journal of clinical cases 2022; (10(18)):6156-6162 doi:10.12998/wjcc.v10.i18.6156.

Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

Martín-Hernández E, Quijada-Fraile P, Correcher P, et al.

Journal of clinical medicine 2022; (11(17)) doi:10.3390/jcm11175045.

Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature.

Jin X, Zeng X, Zhao D, Jiang N

Brain and behavior 2022; (12(10)):e2765 doi:10.1002/brb3.2765.

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance.

Chan TCH, Cheung HN, Chow J, et al.

Clinical case reports 2022; (10(9)):e6347 doi:10.1002/ccr3.6347.

In vivo application of base and prime editing to treat inherited retinal diseases.

Jo DH, Bae S, Kim HH, et al.

Progress in retinal and eye research 2023; (94()):101132 doi:10.1016/j.preteyeres.2022.101132.

Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment.

Yamamoto S, Yamashita S, Kakiuchi T, et al.

The American journal of case reports 2022; (23()):e937658 doi:10.12659/AJCR.937658.

Pharmacokinetics, safety, and tolerability of sodium phenylacetate and sodium benzoate in healthy Japanese volunteers: A phase I, single-center, open-label study.

Endo F, Nakamura K, Sano Y, et al.

Drug metabolism and pharmacokinetics 2023; (48()):100474 doi:10.1016/j.dmpk.2022.100474.

A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities.

Abbott J, Senzatimore M, Atwal P

Molecular genetics and metabolism reports 2022; (33(Suppl 1)):100916 doi:10.1016/j.ymgmr.2022.100916.

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.

Feigenbaum A, Lamale-Smith L, Weinstein L

Molecular genetics and metabolism reports 2022; (33(Suppl 1)):100894 doi:10.1016/j.ymgmr.2022.100894.

Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency.

Andrews A, Roberts S, Botto LD

Molecular genetics and metabolism reports 2022; (33(Suppl 1)):100891 doi:10.1016/j.ymgmr.2022.100891.

Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency.

Baker J, Hitchins L, Vucko E, et al.

Molecular genetics and metabolism reports 2022; (33(Suppl 1)):100906 doi:10.1016/j.ymgmr.2022.100906.

Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.

Feigenbaum A

Molecular genetics and metabolism reports 2022; (33(Suppl 1)):100941 doi:10.1016/j.ymgmr.2022.100941.

Anesthesia management protocol for liver transplantation as treatment for ornithine transcarbamylase deficiency.

Baba C, Yukimasa S, Yasuno R, et al.

Paediatric anaesthesia 2023; (33(8)):620-630 doi:10.1111/pan.14691.

Lipid nanoparticle-targeted mRNA formulation as a treatment for ornithine-transcarbamylase deficiency model mice.

Yamazaki K, Kubara K, Ishii S, et al.

Molecular therapy. Nucleic acids 2023; (33()):210-226 doi:10.1016/j.omtn.2023.06.023.

Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.

Seker Yilmaz B, Gissen P

Biomedicines 2023; (11(8)) doi:10.3390/biomedicines11082227.

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation.

Ramosaj A, Singhal P, Schaller A, Laemmle A

Molecular genetics and metabolism reports 2023; (37()):101007 doi:10.1016/j.ymgmr.2023.101007.

Deciphering conundrums of adeno-associated virus liver-directed gene therapy: focus on hemophilia.

Pierce GF, Fong S, Long BR, Kaczmarek R

Journal of thrombosis and haemostasis : JTH 2024; (22(5)):1263-1289 doi:10.1016/j.jtha.2023.12.005.

Two pregnancies of an ornithine carbamoyltransferase deficiency disease carrier and review of the literature.

Arhip L, Agreda J, Serrano-Moreno C, et al.

Nutricion hospitalaria 2024; (41(2)):489-509 doi:10.20960/nh.04867.

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Aldrian D, Waldner B, Vogel GF, et al.

Journal of inherited metabolic disease 2024; (47(2)):220-229 doi:10.1002/jimd.12717.

Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency.

Seol H, Hong YH, Jeon MJ

AACE clinical case reports 2024; (10(2)):71-74 doi:10.1016/j.aace.2024.01.005.

Severe Sepsis Associated With Multiorgan Failure and Precipitating Nonhepatic Hyperammonemia Crisis in Late-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Literature Review.

Forsah SF, Ugwendum D, Arrey Agbor DB, et al.

Cureus 2024; (16(3)):e55711 doi:10.7759/cureus.55711.

Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.

Zhou Y, Jiang X, Zhang Y, et al.

BMC pregnancy and childbirth 2024; (24(1)):491 doi:10.1186/s12884-024-06696-5.

Hyperosmolarity in children with hyperammonemia: a risk of brain herniation at the start of renal replacement therapy.

Maghmoul Y, Wiedemann A, Barcat L, et al.

Frontiers in pediatrics 2024; (12()):1431008 doi:10.3389/fped.2024.1431008.

A preliminary retrospective evaluation of screening and diagnosis of ornithine transcarbamylase deficiency in high-risk patients at a referral center in Vietnam.

Tran DM, Tran TTT, Luong QH, Tran MTC

Heliyon 2024; (10(16)):e36003 doi:10.1016/j.heliyon.2024.e36003.

Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.

Zhang C, Shan J, Su J, et al.

Neurology. Genetics 2024; (10(6)):e200204 doi:10.1212/NXG.0000000000200204.

Maternal and Newborn Care for Ornithine Transcarbamylase Deficiency.

Anderson S

MCN. The American journal of maternal child nursing 2025; (50(1)):46-51 doi:10.1097/NMC.0000000000001057.

Characterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe OTC deficiency.

Zhou J, Liang S, Yin L, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2025; (33(3)):1197-1212 doi:10.1016/j.ymthe.2025.01.010.

Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency.

Ito Y, Kakiuchi T, Yoshioka F, Yoshiura M

Clinical case reports 2025; (13(2)):e70268 doi:10.1002/ccr3.70268.

Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD).

Theodore-Oklota C, O'Mara A, Butler J, et al.

Journal of patient-reported outcomes 2025; (9(1)):123 doi:10.1186/s41687-025-00939-5.

Nitrogen Scavengers: History, Clinical Considerations and Future Prospects.

Klassa S, Häberle J

Journal of inherited metabolic disease 2025; (48(6)):e70110 doi:10.1002/jimd.70110.

Navigating molecular therapies: The emerging role of mRNA in treating inherited metabolic diseases.

Castro-Alpízar JA, Lenderink MJ, Nieuwenhuis EES, et al.

Molecular genetics and metabolism 2025; (147(1)):109698 doi:10.1016/j.ymgme.2025.109698.

Impact of glycerol phenylbutyrate on biochemistry and outcomes in paediatric patients with urea cycle disorders: a multicentre case series from Saudi Arabia.

Hejazi R, Alghamdi TH, Salih R, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.

Dweikat I, Kassem H, Hamdan KR, et al.

BMC pediatrics 2026; (26(1)).

Unexplained hyperammonemia in the emergency department: Late-onset ornithine transcarbamylase deficiency in a 75-year-old man.

Lee JH, Moon S, Jung H, et al.

The American journal of emergency medicine 2026; (109()):158-161 doi:10.1016/j.ajem.2026.07.008.