Research & Literature

Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder.

Mahmood T, Nugent K

Proceedings (Baylor University. Medical Center) 2015; (28(3)):375-7 doi:10.1080/08998280.2015.11929281.

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.

Jamiolkowski D, Kölker S, Glahn EM, et al.

Journal of inherited metabolic disease 2016; (39(2)):231-41 doi:10.1007/s10545-015-9887-8.

Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency.

Chantreuil J, Favrais G, Fakhri N, et al.

JIMD reports 2016; (27()):55-62 doi:10.1007/8904_2015_486.

Teaching NeuroImages: Ornithine transcarbamylase deficiency revealed by a coma in a pregnant woman.

Bailly P, Noury JB, Timsit S, Ben Salem D

Neurology 2015; (85(20)):e146-7 doi:10.1212/WNL.0000000000002131.

Long-Term Follow-Up on a Cohort Temporary Utilization Authorization (ATU) Survey of Patients Treated with Pheburane (Sodium Phenylbutyrate) Taste-Masked Granules.

Kibleur Y, Guffon N

Paediatric drugs 2016; (18(2)):139-44 doi:10.1007/s40272-015-0159-8.

Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency.

Bijvoet GP, van der Sijs-Bos CJ, Wielders JP, Groot OA

The Netherlands journal of medicine 2016; (74(1)):36-9.

Clinical manifestations and growth of patients with urea cycle disorders in Japan.

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

Journal of human genetics 2016; (61(7)):613-6 doi:10.1038/jhg.2016.17.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset R, Garcia-Cazorla A, Valayannopoulos V, et al.

Journal of inherited metabolic disease 2016; (39(5)):661-672 doi:10.1007/s10545-016-9938-9.

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

Diez-Fernandez C, Wellauer O, Gemperle C, et al.

Journal of medical genetics 2016; (53(10)):710-9 doi:10.1136/jmedgenet-2016-103937.

[Citrullinemia type I with recurrent liver failure in a child].

Bindi V, Eiroa H

Archivos argentinos de pediatria 2017; (115(1)):e39-e42 doi:10.5546/aap.2017.e39.

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

Diez-Fernandez C, Rüfenacht V, Häberle J

Human mutation 2017; (38(5)):471-484 doi:10.1002/humu.23184.

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate.

Mokhtarani M, Diaz GA, Lichter-Konecki U, et al.

Molecular genetics and metabolism reports 2015; (5()):12-14 doi:10.1016/j.ymgmr.2015.09.003.

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.

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 utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.

Wiwattanadittakul N, Prust M, Gaillard WD, et al.

Molecular genetics and metabolism 2018; (125(3)):235-240 doi:10.1016/j.ymgme.2018.08.011.

Acute pediatric hyperammonemia: current diagnosis and management strategies.

Savy N, Brossier D, Brunel-Guitton C, et al.

Hepatic medicine : evidence and research 2018; (10()):105-115 doi:10.2147/HMER.S140711.

Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism.

Bennett EE, Hummel K, Smith AG, Longo N

The Journal of emergency medicine 2019; (56(1)):e5-e8 doi:10.1016/j.jemermed.2018.09.037.

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.

Early prediction of phenotypic severity in Citrullinemia Type 1.

Zielonka M, Kölker S, Gleich F, et al.

Annals of clinical and translational neurology 2019; (6(9)):1858-1871 doi:10.1002/acn3.50886.

A Case of Atypical Adult Presentation of Urea Cycle Disorder.

Wang B, Jha P

WMJ : official publication of the State Medical Society of Wisconsin 2019; (118(2)):98-100.

Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency.

Matsufuji M, Takeshita E, Nakashima M, et al.

Brain & development 2020; (42(2)):231-235 doi:10.1016/j.braindev.2019.09.002.

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.

Baruteau J, Khalil Y, Grunewald S, et al.

Metabolites 2019; (9(11)) doi:10.3390/metabo9110275.

Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

Cano A, Resseguier N, Ouattara A, et al.

The Journal of pediatrics 2020; (220()):184-192.e6 doi:10.1016/j.jpeds.2020.01.059.

A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism.

Ames EG, Luckritz KE, Ahmad A

Pediatric nephrology (Berlin, Germany) 2020; (35(9)):1761-1769 doi:10.1007/s00467-020-04533-3.

Perioperative management of children with urea cycle disorders.

Del Río C, Martín-Hernández E, Ruiz A, et al.

Paediatric anaesthesia 2020; (30(7)):780-791 doi:10.1111/pan.13905.

Proposed Plasma Ammonia Reference Intervals in a Reference Group of Hospitalized Term and Preterm Neonates.

Madigan T, Block DR, Carey WA, et al.

The journal of applied laboratory medicine 2020; (5(2)):363-369 doi:10.1093/jalm/jfz001.

Sunitinib-associated hyperammonemic encephalopathy.

Lipe DN, Hoxha B, Sahai SK

The American journal of emergency medicine 2021; (46()):282-283 doi:10.1016/j.ajem.2020.07.079.

Irritability, Poor Feeding and Respiratory Alkalosis in Newborns: Think about Metabolic Emergencies. A Brief Summary of Hyperammonemia Management.

Del Re S, Empain A, Vicinanza A, et al.

Pediatric reports 2020; (12(3)):77-85 doi:10.3390/pediatric12030019.

A holistic approach to the patients/ Families with inborn errors of metabolism.

Burgard P

Journal of mother and child 2020; (24(2)):65-72 doi:10.34763/jmotherandchild.20202402si.2004.000010.

[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.

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.

Outcome of Liver Transplantation for Neonatal-onset Citrullinemia Type I.

Liu Y, Luo Y, Xia L, et al.

Transplantation 2021; (105(3)):569-576 doi:10.1097/TP.0000000000003261.

Fatal Encephalopathy Caused by a Urea Cycle Disorder.

Park SH, Lee JH, Choi SJ, et al.

Journal of clinical neurology (Seoul, Korea) 2021; (17(2)):325-327 doi:10.3988/jcn.2021.17.2.325.

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.

Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Ebrahimi-Fakhari D, Saffari A, Pearl PL

Molecular genetics and metabolism 2022; (137(4)):436-444 doi:10.1016/j.ymgme.2021.06.006.

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.

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.

Anesthetic Management of a Patient With Citrullinemia Type I During Dental Treatment.

Shibuya M, Iwamoto R, Kimura Y, et al.

Anesthesia progress 2021; (68(3)):158-162 doi:10.2344/anpr-68-02-04.

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.

Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations.

Moarefian S, Zamani M, Rahmanifar A, et al.

JIMD reports 2022; (63(3)):231-239 doi:10.1002/jmd2.12277.

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.

Asymptomatic ASS1 carriers with high blood citrulline levels.

Chen HA, Hsu RH, Chang KL, et al.

Molecular genetics & genomic medicine 2022; (10(9)):e2007 doi:10.1002/mgg3.2007.

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.

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.

Bazo A, Lantero A, Mauleón I, et al.

International journal of molecular sciences 2022; (23(23)) doi:10.3390/ijms232314940.

Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report.

Borsuk M, Saab M, Tobin M

Clinical practice and cases in emergency medicine 2023; (7(1)):20-23 doi:10.5811/cpcem.2022.10.57277.

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.

Hyperammonemia Encephalopathy due to Urea Cycle Disorder Precipitated by Gastrointestinal Bleed in the Setting of Prior Bariatric Surgery.

Loeffler J, Elfiky A, Al Moussawi H, Ravindran N

ACG case reports journal 2023; (10(10)):e01164 doi:10.14309/crj.0000000000001164.

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.

Citrullinemia and What Else?

Almeida J, Ferreira F, Baptista N, et al.

Endocrine, metabolic & immune disorders drug targets 2023; doi:10.2174/0118715303280142231006103019.

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.

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.

Seker Yilmaz B, Baruteau J, Chakrapani A, et al.

Molecular genetics and metabolism reports 2023; (37()):101020 doi:10.1016/j.ymgmr.2023.101020.

ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.

Seidl MJ, Scharre S, Posset R, et al.

Molecular genetics and metabolism 2024; (141(1)):108097 doi:10.1016/j.ymgme.2023.108097.

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Belaramani KM, Chan TCH, Hau EWL, et al.

International journal of neonatal screening 2024; (10(1)) doi:10.3390/ijns10010023.

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission.

Wu Z, Liang T, Liu Y, et al.

Frontiers in genetics 2024; (15()):1389461 doi:10.3389/fgene.2024.1389461.

Advances in the impact of ASS1 dysregulation on metabolic reprogramming of tumor cells.

Xia J, Liu W, Ni Y, et al.

Cellular signalling 2025; (127()):111593 doi:10.1016/j.cellsig.2025.111593.

Retrospective review of urine organic acids data from patients with citrullinemia type I - Looking for the 'cyclic derivative of citrulline'.

Brose SA, Hobert JA

Molecular genetics and metabolism 2025; (144(3)):109053 doi:10.1016/j.ymgme.2025.109053.

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.

99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.

Cen Z, Zhang C, Ge P, et al.

Clinica chimica acta; international journal of clinical chemistry 2026; (578()):120491 doi:10.1016/j.cca.2025.120491.

Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1.

Deng L, Liu Y, Chen K, et al.

Frontiers in pediatrics 2025; (13()):1593427 doi:10.3389/fped.2025.1593427.

[A 71-year-old woman with adult-onset type II citrullinemia, initially presenting with normal blood ammonia levels].

Nomura D, Fukushima T, Takahashi M, et al.

Rinsho shinkeigaku = Clinical neurology 2025; doi:10.5692/clinicalneurol.cn-002161.

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.

Khan M, Rafique SA, Khan S, et al.

Clinical case reports 2026; (14(2)):e72053 doi:10.1002/ccr3.72053.

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; doi:10.1038/s41598-026-42150-6.