Research & Literature

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

Kölker S, Dobbelaere D, Häberle J, et al.

JIMD reports 2015; (22()):29-38 doi:10.1007/8904_2015_408.

The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms.

Shi D, Allewell NM, Tuchman M

International journal of molecular sciences 2015; (16(6)):13004-22 doi:10.3390/ijms160613004.

Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.

de Cima S, Polo LM, Díez-Fernández C, et al.

Scientific reports 2015; (5()):16950 doi:10.1038/srep16950.

[Diagnosis and treatment of urea cycle disorders in adult patients].

Maillot F, Blasco H, Lioger B, et al.

La Revue de medecine interne 2016; (37(10)):680-684 doi:10.1016/j.revmed.2016.02.011.

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

Sancho-Vaello E, Marco-Marín C, Gougeard N, et al.

Human mutation 2016; (37(7)):679-94 doi:10.1002/humu.22995.

Guidelines for acute management of hyperammonemia in the Middle East region.

Alfadhel M, Mutairi FA, Makhseed N, et al.

Therapeutics and clinical risk management 2016; (12()):479-87 doi:10.2147/TCRM.S93144.

Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.

van de Logt AE, Kluijtmans LA, Huigen MC, Janssen MC

JIMD reports 2017; (31()):95-99 doi:10.1007/8904_2016_565.

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

Waisbren SE, Gropman AL, , Batshaw ML

Journal of inherited metabolic disease 2016; (39(4)):573-84 doi:10.1007/s10545-016-9942-0.

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

Al Kaabi EH, El-Hattab AW

Molecular genetics and metabolism reports 2016; (8()):94-8 doi:10.1016/j.ymgmr.2016.08.004.

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.

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.

Choi R, Park HD, Yang M, et al.

Annals of laboratory medicine 2017; (37(1)):58-62 doi:10.3343/alm.2017.37.1.58.

Effect of arginine on oligomerization and stability of N-acetylglutamate synthase.

Haskins N, Mumo A, Brown PH, et al.

Scientific reports 2016; (6()):38711 doi:10.1038/srep38711.

Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

Shi D, Zhao G, Ah Mew N, Tuchman M

Molecular genetics and metabolism 2017; (120(3)):198-206 doi:10.1016/j.ymgme.2016.12.002.

Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.

Reigstad H, Woldseth B, Häberle J

JIMD reports 2017; (37()):45-47 doi:10.1007/8904_2017_13.

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.

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Cavicchi C, Chilleri C, Fioravanti A, et al.

International journal of molecular sciences 2018; (19(2)) doi:10.3390/ijms19020345.

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.

Chapel-Crespo CC, Diaz GA, Oishi K

Expert review of endocrinology & metabolism 2016; (11(6)):467-473 doi:10.1080/17446651.2016.1239526.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Williams M, Burlina A, Rubert L, et al.

Scientific reports 2018; (8(1)):15436 doi:10.1038/s41598-018-33457-0.

Carglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report.

Sattar Y, Wasiq S, Yasin W, et al.

Cureus 2018; (10(9)):e3292 doi:10.7759/cureus.3292.

A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.

Khoja S, Nitzahn M, Truong B, et al.

Journal of inherited metabolic disease 2019; (42(6)):1044-1053 doi:10.1002/jimd.12048.

Challenges in diagnosing and managing adult patients with urea cycle disorders.

Stepien KM, Geberhiwot T, Hendriksz CJ, Treacy EP

Journal of inherited metabolic disease 2019; (42(6)):1136-1146 doi:10.1002/jimd.12096.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Häberle J, Burlina A, Chakrapani A, et al.

Journal of inherited metabolic disease 2019; (42(6)):1192-1230 doi:10.1002/jimd.12100.

Neonatal Metabolic Crises: A Practical Approach.

Williams KB, Held PK, Scott Schwoerer J

Clinics in perinatology 2020; (47(1)):155-170 doi:10.1016/j.clp.2019.10.003.

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family.

Peoc'h K, Damaj L, Pelletier R, et al.

Molecular genetics and metabolism reports 2020; (22()):100558 doi:10.1016/j.ymgmr.2019.100558.

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.

Isler J, Rüfenacht V, Gemperle C, et al.

JIMD reports 2020; (52(1)):28-34 doi:10.1002/jmd2.12091.

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

Kenneson A, Singh RH

Orphanet journal of rare diseases 2020; (15(1)):279 doi:10.1186/s13023-020-01560-z.

A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.

Olgac A, Kasapkara ÇS, Kilic M, et al.

Archivos argentinos de pediatria 2020; (118(6)):e545-e548 doi:10.5546/aap.2020.eng.e545.

Extracorporeal Ammonia Clearance for Hyperammonemia in Critically Ill Patients: A Scoping Review.

Naorungroj T, Yanase F, Eastwood GM, et al.

Blood purification 2021; (50(4-5)):453-461 doi:10.1159/000512100.

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency].

Chen J, Yuan H, Xie K, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(12)):1360-1363 doi:10.3760/cma.j.cn511374-20200203-00055.

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.

Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.

Haskins N, Bhuvanendran S, Anselmi C, et al.

Frontiers in physiology 2020; (11()):542950 doi:10.3389/fphys.2020.542950.

Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.

Sonaimuthu P, Senkevitch E, Haskins N, et al.

Scientific reports 2021; (11(1)):3580 doi:10.1038/s41598-021-82994-8.

Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

Häberle J, Moore MB, Haskins N, et al.

Human mutation 2021; (42(12)):1624-1636 doi:10.1002/humu.24281.

Challenges in the diagnosis and management of urea cycle disorders in Romanian children.

Pop TL, Grama A, Miclea D, et al.

Medicine and pharmacy reports 2021; (94(Suppl No 1)):S36-S39 doi:10.15386/mpr-2226.

Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.

Bélanger-Quintana A, Arrieta Blanco F, Barrio-Carreras D, et al.

Nutrients 2022; (14(13)) doi:10.3390/nu14132755.

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

Selvanathan A, Demetriou K, Lynch M, et al.

JIMD reports 2022; (63(5)):420-424 doi:10.1002/jmd2.12318.

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency.

Bai R, He A, Guo J, et al.

Frontiers in neuroscience 2022; (16()):1025572 doi:10.3389/fnins.2022.1025572.

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.

Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.

Abou Haidar L, Pachnis P, Gotway GK, et al.

JIMD reports 2023; (64(6)):403-409 doi:10.1002/jmd2.12388.

Urea cycle disorders in critically Ill adults.

Long MT, Kruser JM, Quinonez SC

Current opinion in clinical nutrition and metabolic care 2024; (27(2)):184-191 doi:10.1097/MCO.0000000000000992.

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

Stepien KM, Langendonk JG, Dao M, et al.

Journal of inherited metabolic disease 2024; (47(6)):1239-1259 doi:10.1002/jimd.12695.

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.

Singh RH, Bourdages MH, Kurtz A, et al.

Orphanet journal of rare diseases 2024; (19(1)):168 doi:10.1186/s13023-024-03167-0.

Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy.

Das AM

Metabolic brain disease 2025; (40(5)):192 doi:10.1007/s11011-025-01619-5.

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.

Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report.

Thaver S, Ebrahim M, Noorani M, et al.

BMC pediatrics 2025; (26(1)):86 doi:10.1186/s12887-025-06449-z.

Perspective Article: Hyperammonemia without Liver Failure - Key Considerations for Intensivists.

Gillis P, Gennart T, Blackman S, et al.

Blood purification 2026; (55(8)):553-560 doi:10.1159/000551474.

Resources and care structures for management of urea cycle disorders in Japan and the United States: A system-level comparison.

Nakajima Y, MacLeod E, Hirano K, et al.

Molecular genetics and metabolism 2026; (148(3)):110162 doi:10.1016/j.ymgme.2026.110162.

Ammonia storm: unmasking a suspected rare proximal urea cycle disorder in adulthood.

Vikhe V, Shaik MH, Khaire P, et al.

BMC neurology 2026; (26(1)).