Research & Literature

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Cazorla AG, et al.

Journal of inherited metabolic disease 2015; (38(6)):1041-57 doi:10.1007/s10545-015-9839-3.

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.

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.

Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases.

Yankol Y, Mecit N, Kanmaz T, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2017; (15(5)):581-584 doi:10.6002/ect.2015.0078.

NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

Wen W, Yin D, Huang F, et al.

BMC medical genetics 2016; (17()):9 doi:10.1186/s12881-016-0273-7.

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

Ganetzky RD, Bedoukian E, Deardorff MA, Ficicioglu C

JIMD reports 2017; (34()):43-47 doi:10.1007/8904_2016_2.

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.

Sodium 4-phenylbutyrate reduces myofiber damage in a mouse model of Duchenne muscular dystrophy.

Begam M, Abro VM, Mueller AL, Roche JA

Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme 2016; (41(10)):1108-1111 doi:10.1139/apnm-2016-0173.

[Metabolic approach in epileptic encephalopathies in infants].

Lopez-Marin L

Revista de neurologia 2017; (64(s03)):S49-S53.

Trichoscopy of an Isolated Trichorrhexis Nodosa: A Case Report.

Shah S, Ankad BS

Indian dermatology online journal 2017; (8(5)):386-387 doi:10.4103/idoj.IDOJ_396_16.

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.

Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.

Kim D, Ko JM, Kim YM, et al.

Journal of human genetics 2018; (63(8)):911-917 doi:10.1038/s10038-018-0467-2.

Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.

Wang FS, Goh DLM, Ong HT

Journal of medical case reports 2018; (12(1)):208 doi:10.1186/s13256-018-1750-8.

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.

Kho J, Tian X, Wong WT, et al.

American journal of human genetics 2018; (103(2)):276-287 doi:10.1016/j.ajhg.2018.07.008.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.

Baruteau J, Perocheau DP, Hanley J, et al.

Nature communications 2018; (9(1)):3505 doi:10.1038/s41467-018-05972-1.

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.

Ciliopathy: Alström Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2018; (1085()):179-180 doi:10.1007/978-3-319-95046-4_35.

Acquired trichorrhexis nodosa: how to diagnose it?

Turra N, Navarrete J, Magliano J, Bazzano C

Dermatology online journal 2018; (24(11)).

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

Baruteau J, Diez-Fernandez C, Lerner S, et al.

Journal of inherited metabolic disease 2019; (42(6)):1147-1161 doi:10.1002/jimd.12047.

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.

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.

[Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria].

Li W, Li H

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(9)):926-929 doi:10.3760/cma.j.issn.1003-9406.2019.09.018.

Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.

Griffin C, Ammous Z, Vance GH, et al.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2019; (1128()):121786 doi:10.1016/j.jchromb.2019.121786.

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.

Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?

Seminotti B, da Silva JC, Ribeiro RT, et al.

Molecular neurobiology 2020; (57(2)):1233-1244 doi:10.1007/s12035-019-01825-0.

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.

ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus.

Lerner S, Anderzhanova E, Verbitsky S, et al.

Cell reports 2019; (29(8)):2144-2153.e7 doi:10.1016/j.celrep.2019.10.043.

Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.

Burrage LC, Madan S, Li X, et al.

JCI insight 2020; (5(4)).

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.

Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report.

Osawa Y, Wada A, Ohtsu Y, et al.

Molecular genetics and metabolism reports 2020; (24()):100605 doi:10.1016/j.ymgmr.2020.100605.

Unraveling the Cyclization of l-Argininosuccinic Acid in Biological Samples: A Study via Mass Spectrometry and NMR Spectroscopy.

Mamani-Huanca M, Gradillas A, López-Gonzálvez Á, Barbas C

Analytical chemistry 2020; (92(19)):12891-12899 doi:10.1021/acs.analchem.0c01420.

Determination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection.

Salmanizadeh H, Sahi N

Acta biochimica Polonica 2020; (67(3)):347-351 doi:10.18388/abp.2020_5164.

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.

Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation.

Jin Z, Kho J, Dawson B, et al.

The Journal of clinical investigation 2021; (131(5)).

Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.

Ediger K, Hicks A, Siriwardena K, Joynt C

BMJ case reports 2021; (14(3)) doi:10.1136/bcr-2020-241032.

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.

Transient Elastography in Pediatric Liver Disease.

Banc-Husu AM, Bass LM

Journal of pediatric gastroenterology and nutrition 2021; (73(2)):141-144 doi:10.1097/MPG.0000000000003168.

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.

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.

Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia.

Leuger L, Dieu X, Chao de la Barca JM, et al.

JIMD reports 2021; (62(1)):44-48 doi:10.1002/jmd2.12251.

NO source in higher plants: present and future of an unresolved question.

Corpas FJ, González-Gordo S, Palma JM

Trends in plant science 2022; (27(2)):116-119 doi:10.1016/j.tplants.2021.11.016.

The Potential of L-Arginine in Prevention and Treatment of Disturbed Carbohydrate and Lipid Metabolism-A Review.

Szlas A, Kurek JM, Krejpcio Z

Nutrients 2022; (14(5)) doi:10.3390/nu14050961.

Acquired Trichorrhexis Nodosa Secondary to Trichoteiromania: Prompt Diagnosis Using Trichoscopy.

Jindal R, Chauhan P, Bhardwaj N, Chugh R

International journal of trichology 2022; (14(1)):34-37 doi:10.4103/ijt.ijt_64_19.

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.

Mechanisms and Clinical Implications of Endothelial Dysfunction in Arterial Hypertension.

Ambrosino P, Bachetti T, D'Anna SE, et al.

Journal of cardiovascular development and disease 2022; (9(5)) doi:10.3390/jcdd9050136.

Coronary Vasospasm in a Patient With Argininosuccinic Aciduria.

Nagayoshi Y, Nakayama M, Nagano H, et al.

The American journal of cardiology 2023; (192()):155-159 doi:10.1016/j.amjcard.2023.01.036.

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.

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Elkhateeb N, Olivieri G, Siri B, et al.

Epilepsia 2023; (64(6)):1612-1626 doi:10.1111/epi.17596.

Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.

Kho J, Polak U, Jiang MM, et al.

JCI insight 2023; (8(17)).

Nitric oxide is required for lung alveolarization revealed by deficiency of argininosuccinate lyase.

Jin Z, Jiang MM, Lee B

Human molecular genetics 2023; (33(1)):33-37 doi:10.1093/hmg/ddad158.

Treatment of Hyperammonemia Syndrome in Lung Transplant Recipients.

Yun S, Scalia C, Farghaly S

Journal of clinical medicine 2023; (12(22)) doi:10.3390/jcm12226975.

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

Gurung S, Karamched S, Perocheau D, et al.

Journal of inherited metabolic disease 2024; (47(6)):1213-1227 doi:10.1002/jimd.12691.

Plica Neuropathica in 2 Hispanic Patients.

Asz-Sigall D, Ramos-Cavazos C, Gay-Muñoz PM, et al.

Skin appendage disorders 2023; (9(6)):453-456 doi:10.1159/000531938.

Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.

Duff C, Islam M, Gagliano O, et al.

Stem cell research 2024; (76()):103365 doi:10.1016/j.scr.2024.103365.

Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors.

Jalil S, Keskinen T, Juutila J, et al.

American journal of human genetics 2024; (111(4)):714-728 doi:10.1016/j.ajhg.2024.03.004.

Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases.

Perocheau D, Gurung S, Touramanidou L, et al.

F1000Research 2023; (12()):1580 doi:10.12688/f1000research.142014.2.

Fatal consequences of limited health literacy in a patient with a rare metabolic disease.

McNutt MC

Molecular genetics and metabolism reports 2024; (39(Suppl 1)):101121 doi:10.1016/j.ymgmr.2024.101121.

Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.

Siri B, Greco B, Martinelli D, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12843 doi:10.1002/jimd.12843.

Continuous renal replacement therapy for severe transient hyperammonemia in a preterm infant weighing 1120 g: A case report.

Xu J, Liu J, Yang H, et al.

The Journal of international medical research 2025; (53(5)):3000605251340556 doi:10.1177/03000605251340556.

Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders.

Ali S, Nisar A, Zhang A, et al.

Molecular genetics and metabolism 2025; (145(4)):109175 doi:10.1016/j.ymgme.2025.109175.

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Zhang K, Lu D, Liang L, et al.

Orphanet journal of rare diseases 2025; (20(1)):509 doi:10.1186/s13023-025-04026-2.

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)).

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.