Research & Literature

Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

Ali EZ, Khalid MK, Yunus ZM, et al.

European journal of pediatrics 2016; (175(3)):339-46 doi:10.1007/s00431-015-2644-z.

Liver Transplantation for Urea Cycle Disorders: Analysis of the United Network for Organ Sharing Database.

Yu L, Rayhill SC, Hsu EK, Landis CS

Transplantation proceedings 2015; (47(8)):2413-8.

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.

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.

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.

Immunosuppression in pediatric liver transplant recipients: Unique aspects.

Miloh T, Barton A, Wheeler J, et al.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2017; (23(2)):244-256 doi:10.1002/lt.24677.

Health-related quality of life after pediatric liver transplantation: A systematic review.

Parmar A, Vandriel SM, Ng VL

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2017; (23(3)):361-374 doi:10.1002/lt.24696.

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.

Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.

Diez-Fernandez C, Häberle J

Expert opinion on therapeutic targets 2017; (21(4)):391-399 doi:10.1080/14728222.2017.1294685.

Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.

Zhang G, Chen Y, Ju H, et al.

Journal of clinical laboratory analysis 2018; (32(2)) doi:10.1002/jcla.22241.

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.

Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.

Yang X, Shi J, Lei H, et al.

Medicine 2017; (96(26)):e7365 doi:10.1097/MD.0000000000007365.

First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).

Kose E, Kuyum P, Aksoy B, et al.

Journal of clinical pharmacy and therapeutics 2018; (43(1)):124-128 doi:10.1111/jcpt.12593.

Efficacy of peritoneal dialysis in neonates presenting with hyperammonaemia due to urea cycle defects and organic acidaemia.

Celik M, Akdeniz O, Ozgun N

Nephrology (Carlton, Vic.) 2019; (24(3)):330-335 doi:10.1111/nep.13224.

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.

Hediger N, Landolt MA, Diez-Fernandez C, et al.

Journal of inherited metabolic disease 2018; (41(4)):689-698 doi:10.1007/s10545-018-0157-4.

Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.

Khoja S, Nitzahn M, Hermann K, et al.

Molecular genetics and metabolism 2018; (124(4)):243-253 doi:10.1016/j.ymgme.2018.04.001.

Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.

Kido J, Matsumoto S, Mitsubuchi H, et al.

Metabolic brain disease 2018; (33(5)):1517-1523 doi:10.1007/s11011-018-0259-6.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Molema F, Gleich F, Burgard P, et al.

Journal of inherited metabolic disease 2019; (42(6)):1162-1175 doi:10.1002/jimd.12066.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Molema F, Gleich F, Burgard P, et al.

Molecular genetics and metabolism 2019; (126(4)):397-405 doi:10.1016/j.ymgme.2019.02.003.

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.

Ninković D, Mustapić Ž, Bartoniček D, et al.

Klinische Padiatrie 2019; (231(2)):74-79 doi:10.1055/a-0855-4001.

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.

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, et al.

Annals of neurology 2019; (86(1)):116-128 doi:10.1002/ana.25492.

Hyperammonemia, the Last Indication of High-Volume Hemodiafiltration in Adult and Children: A Structured Review.

Redant S, Beretta-Piccoli X, Mugisha A, et al.

Blood purification 2019; (48(4)):330-335 doi:10.1159/000501390.

N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.

Yap S, Gougeard N, Hart AR, et al.

JIMD reports 2019; (48(1)):36-44 doi:10.1002/jmd2.12034.

Is there any relationship between mutation in CPS1 Gene and pregnancy loss?

Talebi M, Yahya Vahidi Mehrjardi M, Kalhor K, Dehghani M

International journal of reproductive biomedicine 2019; (17(5)) doi:10.18502/ijrm.v17i5.4604.

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.

Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.

Raina R, Bedoyan JK, Lichter-Konecki U, et al.

Nature reviews. Nephrology 2020; (16(8)):471-482 doi:10.1038/s41581-020-0267-8.

Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.

Nitzahn M, Allegri G, Khoja S, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2020; (28(7)):1717-1730 doi:10.1016/j.ymthe.2020.04.011.

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.

Sugiyama Y, Shimura M, Ogawa-Tominaga M, et al.

Molecular genetics and metabolism reports 2020; (24()):100622 doi:10.1016/j.ymgmr.2020.100622.

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.

The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.

Zhou Q, Huang H, Ma L, Zhu T

BioMed research international 2020; (2020()):5690915 doi:10.1155/2020/5690915.

Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.

Imataka G, Ishii J, Ando Y, et al.

European review for medical and pharmacological sciences 2020; (24(19)):10051-10053 doi:10.26355/eurrev_202010_23220.

Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.

Vasquez-Loarte T, Thompson JD, Merritt JL

International journal of neonatal screening 2020; (6(4)) doi:10.3390/ijns6040077.

Primary hyperammonaemia: Current diagnostic and therapeutic strategies.

Häberle J

Journal of mother and child 2020; (24(2)):32-38 doi:10.34763/jmotherandchild.20202402si.2015.000006.

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.

Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.

Kido J, Matsumoto S, Häberle J, et al.

Journal of inherited metabolic disease 2021; (44(4)):826-837 doi:10.1002/jimd.12384.

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.

Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time.

Ziogas IA, Wu WK, Matsuoka LK, et al.

Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society 2021; (27(12)):1799-1810 doi:10.1002/lt.26186.

Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.

Kido J, Matsumoto S, Häberle J, et al.

Journal of inherited metabolic disease 2021; (44(6)):1311-1322 doi:10.1002/jimd.12415.

Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.

Eminoğlu FT, Öncül Ü, Kahveci F, et al.

Pediatric nephrology (Berlin, Germany) 2022; (37(6)):1387-1397 doi:10.1007/s00467-021-05329-9.

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.

Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.

Choi Y, Oh A, Lee Y, et al.

Clinica chimica acta; international journal of clinical chemistry 2022; (526()):55-61 doi:10.1016/j.cca.2021.11.029.

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.

Yeo M, Rehsi P, Dorman M, et al.

JIMD reports 2022; (63(2)):137-145 doi:10.1002/jmd2.12274.

Pediatric Liver Transplantation: Long-Term Follow-Up Issues.

Bellini MI, Lauro A, D'Andrea V, Marino IR

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2022; (20(Suppl 3)):27-35 doi:10.6002/ect.PediatricSymp2022.L16.

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.

Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.

Lopes FF, Sitta A, de Moura Coelho D, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2022; (82(8)):772-788 doi:10.1002/jdn.10229.

Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.

Lin HT, Enchautegui-Colon Y, Huang YR, et al.

Molecular genetics and metabolism reports 2022; (33()):100942 doi:10.1016/j.ymgmr.2022.100942.

Urea cycle disorders and indications for liver transplantation.

García Vega M, Andrade JD, Morais A, et al.

Frontiers in pediatrics 2023; (11()):1103757 doi:10.3389/fped.2023.1103757.

Citrulline in the management of patients with urea cycle disorders.

Imbard A, Bouchereau J, Arnoux JB, et al.

Orphanet journal of rare diseases 2023; (18(1)):207 doi:10.1186/s13023-023-02800-8.

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

Yeo M, Rehsi P, Dorman M, et al.

JIMD reports 2023; (64(5)):317-326 doi:10.1002/jmd2.12386.

Treatment and management for children with urea cycle disorder in chronic stage.

Huang X

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023; (52(6)):744-750 doi:10.3724/zdxbyxb-2023-0378.

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.

Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.

Zhang Z, Tong F, Chen C, et al.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023; (52(6)):721-726 doi:10.3724/zdxbyxb-2023-0359.

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

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

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(4)):101039 doi:10.1016/j.gim.2023.101039.

Hyperammonemia in a carbamoyl-phosphate synthetase 1 deficiency recipient after living-donor liver transplantation from a carrier donor: a case report.

Kakiuchi T, Nosho T, Oka M, Tashiro K

Frontiers in medicine 2023; (10()):1327854 doi:10.3389/fmed.2023.1327854.

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.

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.

A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency.

Arslan S, Kocaoğlu İ, Yaralı O, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(10)):924-929 doi:10.1515/jpem-2024-0240.

Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency.

Dong H, Sang T, Ma X, et al.

BMC pediatrics 2024; (24(1)):539 doi:10.1186/s12887-024-05005-5.

Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.

Yokota K, Ohtake A, Yamazaki T, et al.

Molecular genetics and metabolism reports 2025; (43()):101200 doi:10.1016/j.ymgmr.2025.101200.

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.

A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.

Bakshi S, Diep T, Willis BJ, et al.

Disease models & mechanisms 2025; (18(7)) doi:10.1242/dmm.052303.

Hyperammonemia in urea cycle disorders: A toxic metabolite for the brain.

Kido J, Nakamura K

Pediatrics international : official journal of the Japan Pediatric Society 2025; (67(1)):e70121 doi:10.1111/ped.70121.

The current social status in adult patients with urea cycle disorders in Japan.

Kido J, Häberle J, Sugawara K, et al.

Molecular genetics and metabolism 2025; (145(4)):109185 doi:10.1016/j.ymgme.2025.109185.

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.

A case of late-onset carbamoyl phosphate synthetase 1 deficiency: diagnostic challenges and management in a low-resource setting.

Cui X, Guo S, Zhang Y, et al.

Clinical biochemistry 2026; (141()):111041 doi:10.1016/j.clinbiochem.2025.111041.

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)).

From consanguinity to crisis: a rare cause of neonatal encephalopathy.

Kar S, Mude P, Som TK, Sahoo T

BMJ case reports 2026; (19(2)) doi:10.1136/bcr-2025-267688.

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.

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.

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

Scientific reports 2026; (16(1)).

Neonatal carbamoyl phosphate synthetase I deficiency with severe hyperammonemic coma: the first report from Palestine.

Assi AK, Odeh A, Awwad HH, et al.

BMC pediatrics 2026; (26(1)).

Post-meal loss of consciousness in an adult patient with carbamoyl phosphate synthetase 1 deficiency and two newly identified heterozygous variants: a case report.

Ye J, Al-Nusaif M, Yang J, et al.

BMC neurology 2026; (26(1)).

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.

Lee T, Matsui M, Yokoyama Y, et al.

International journal of neonatal screening 2026; (12(2)) doi:10.3390/ijns12020039.

Continuous Renal Replacement Therapy for Acute Decompensation in Inborn Errors of Metabolism: Single-Center, Pediatric Cohort, 2014-2025.

Akyüzlüer Güneş MS, Köse E, Eyduran E, et al.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2026; doi:10.1097/PCC.0000000000004043.