Research & Literature

Xanthinuria type I with a novel mutation of xanthine dehydrogenase.

Tanaka K, Kanazawa I, Yamasaki H, et al.

The American journal of the medical sciences 2015; (350(2)):155-6 doi:10.1097/MAJ.0000000000000498.

Hereditary xanthinuria and urolithiasis in a domestic shorthair cat.

Furman E, Hooijberg EH, Leidinger E, et al.

Comparative clinical pathology 2015; (24(6)):1325-1329 doi:10.1007/s00580-015-2072-5.

Accuracy and Usefulness of Select Methods for Assessing Complete Collection of 24-Hour Urine: A Systematic Review.

John KA, Cogswell ME, Campbell NR, et al.

Journal of clinical hypertension (Greenwich, Conn.) 2016; (18(5)):456-67 doi:10.1111/jch.12763.

Quality Assessment of Urinary Stone Analysis: Results of a Multicenter Study of Laboratories in Europe.

Siener R, Buchholz N, Daudon M, et al.

PloS one 2016; (11(6)):e0156606 doi:10.1371/journal.pone.0156606.

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.

Murgiano L, Jagannathan V, Piffer C, et al.

BMC veterinary research 2016; (12(1)):276 doi:10.1186/s12917-016-0904-4.

Randomized, allopurinol-controlled trial of the effects of dietary nucleotides and active hexose correlated compound in the treatment of canine leishmaniosis.

Segarra S, Miró G, Montoya A, et al.

Veterinary parasitology 2017; (239()):50-56 doi:10.1016/j.vetpar.2017.04.014.

A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase.

Iguchi A, Sato T, Yamazaki M, et al.

CEN case reports 2016; (5(2)):158-162 doi:10.1007/s13730-016-0216-3.

Drug-Induced Kidney Stones and Crystalline Nephropathy: Pathophysiology, Prevention and Treatment.

Daudon M, Frochot V, Bazin D, Jungers P

Drugs 2018; (78(2)):163-201 doi:10.1007/s40265-017-0853-7.

Low-Dose Characterization of Kidney Stones Using Spectral Detector Computed Tomography: An Ex Vivo Study.

Große Hokamp N, Salem J, Hesse A, et al.

Investigative radiology 2018; (53(8)):457-462 doi:10.1097/RLI.0000000000000468.

Hereditary xanthinuria is not so rare disorder of purine metabolism.

Sebesta I, Stiburkova B, Krijt J

Nucleosides, nucleotides & nucleic acids 2018; (37(6)):324-328 doi:10.1080/15257770.2018.1460478.

Molybdenum.

Novotny JA, Peterson CA

Advances in nutrition (Bethesda, Md.) 2018; (9(3)):272-273 doi:10.1093/advances/nmx001.

Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).

Stiburkova B, Pavelcova K, Petru L, Krijt J

Toxicology and applied pharmacology 2018; (353()):102-108 doi:10.1016/j.taap.2018.06.015.

Xanthine urolithiasis: Inhibitors of xanthine crystallization.

Grases F, Costa-Bauza A, Roig J, Rodriguez A

PloS one 2018; (13(8)):e0198881 doi:10.1371/journal.pone.0198881.

Hereditary xanthinuria in a goat.

Vail KJ, Tate NM, Likavec T, et al.

Journal of veterinary internal medicine 2019; (33(2)):1009-1014 doi:10.1111/jvim.15431.

A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China.

Xu T, Xie X, Zhang Z, et al.

Clinica chimica acta; international journal of clinical chemistry 2020; (504()):168-171 doi:10.1016/j.cca.2020.02.012.

In Vitro Inhibition of Human Aldehyde Oxidase Activity by Clinically Relevant Concentrations of Gefitinib and Erlotinib: Comparison with Select Metabolites, Molecular Docking Analysis, and Impact on Hepatic Metabolism of Zaleplon and Methotrexate.

Tan WK, Tan ARY, Sivanandam P, et al.

The Journal of pharmacology and experimental therapeutics 2020; (374(2)):295-307 doi:10.1124/jpet.120.265249.

Urolithiasis due to Hereditary Xanthinuria Type II: A Long-term Follow-up report.

Kubihal S, Goyal A, Singla R, Khadgawat R

Indian pediatrics 2020; (57(5)):468-469.

Comparison of Two Dietary Supplements for Treatment of Uric Acid Renal Lithiasis: Citrate vs. Citrate + Theobromine.

Hernandez Y, Costa-Bauza A, Calvó P, et al.

Nutrients 2020; (12(7)) doi:10.3390/nu12072012.

CT, US and MRI of xanthine urinary stones: in-vitro and in-vivo analyses.

Shamir SB, Peng Q, Schoenfeld AH, et al.

BMC urology 2020; (20(1)):157 doi:10.1186/s12894-020-00736-w.

Fortuitous Discovery of Hereditary Xanthinuria.

Biaz A, Tazi S, Bouhsain S, et al.

Clinical laboratory 2020; (66(10)) doi:10.7754/Clin.Lab.2020.200253.

Pure xanthine pediatric urolithiasis: A cause of acute renal failure.

Umair M, Hussain SZ, Khan A, et al.

Urology case reports 2021; (34()):101438 doi:10.1016/j.eucr.2020.101438.

Hepatic Accumulation of Hypoxanthine: A Link Between Hyperuricemia and Nonalcoholic Fatty Liver Disease.

Toledo-Ibelles P, Gutiérrez-Vidal R, Calixto-Tlacomulco S, et al.

Archives of medical research 2021; (52(7)):692-702 doi:10.1016/j.arcmed.2021.04.005.

A possible interaction between favipiravir and methotrexate: Drug-induced hepatotoxicity in a patient with osteosarcoma.

Demir E, Sütcüoğlu O, Demir B, et al.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2022; (28(2)):445-448 doi:10.1177/10781552211031304.

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.

Peretz H, Lagziel A, Bittner F, et al.

Biomedicines 2021; (9(7)) doi:10.3390/biomedicines9070788.

Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs.

Tate NM, Minor KM, Lulich JP, et al.

Molecular genetics and metabolism reports 2021; (29()):100792 doi:10.1016/j.ymgmr.2021.100792.

Xanthine Oxidoreductase Inhibitors Suppress the Onset of Exercise-Induced AKI in High HPRT Activity Urat1-Uox Double Knockout Mice.

Hosoya T, Uchida S, Shibata S, et al.

Journal of the American Society of Nephrology : JASN 2022; (33(2)):326-341 doi:10.1681/ASN.2021050616.

Association of Mutations Identified in Xanthinuria with the Function and Inhibition Mechanism of Xanthine Oxidoreductase.

Sekine M, Okamoto K, Ichida K

Biomedicines 2021; (9(11)) doi:10.3390/biomedicines9111723.

Xanthinuria secondary to allopurinol treatment in dogs with leishmaniosis: Current perspectives of the Iberian veterinary community.

Jesus L, Arenas C, Domínguez-Ruiz M, et al.

Comparative immunology, microbiology and infectious diseases 2022; (83()):101783 doi:10.1016/j.cimid.2022.101783.

Hypouricemia and Urate Transporters.

Otani N, Ouchi M, Misawa K, et al.

Biomedicines 2022; (10(3)) doi:10.3390/biomedicines10030652.

Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia.

Hakoda M, Ichida K

Biomedicines 2022; (10(7)) doi:10.3390/biomedicines10071696.

Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I.

Collazo Abal C, Romero Santos S, González Mao C, et al.

Advances in laboratory medicine 2021; (2(4)):567-574 doi:10.1515/almed-2021-0018.

The lowest uric acid in kidney transplant and review of literature.

Roozbeh J, Dehghani A, Haghpanah A, Malekmakan L

International journal of organ transplantation medicine 2022; (13(1)):60-62.

Efficacy of Theobromine and Its Metabolites in Reducing the Risk of Uric Acid Lithiasis.

Costa-Bauzá A, Calvó P, Hernández Y, Grases F

International journal of molecular sciences 2023; (24(13)) doi:10.3390/ijms241310879.

Comparative study on the occurrence of adverse effects in the concomitant use of azathioprine and aldehyde oxidase inhibitors.

Ueda H, Narumi K, Asano S, et al.

Expert opinion on drug safety 2024; (23(1)):89-97 doi:10.1080/14740338.2023.2295976.

7-Methylxanthine Inhibits the Formation of Monosodium Urate Crystals by Increasing Its Solubility.

Costa-Bauza A, Grases F

Biomolecules 2023; (13(12)) doi:10.3390/biom13121769.

Molybdenum - a scoping review for Nordic Nutrition Recommendations 2023.

Oskarsson A, Kippler M

Food & nutrition research 2023; (67()) doi:10.29219/fnr.v67.10326.

Non-cytochrome P450 enzyme aldehyde oxidase is involved in the oxidative metabolic pathway of diquat and its detoxification effect.

Mao Z, Yu Y, Ba G, et al.

Pesticide biochemistry and physiology 2024; (199()):105805 doi:10.1016/j.pestbp.2024.105805.

Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease.

Gonçalves PL, Diniz H, Tavares I, et al.

Nephron 2024; (148(8)):578-583 doi:10.1159/000536248.

OsABA3 is Crucial for Plant Survival and Resistance to Multiple Stresses in Rice.

Ni H, Wu W, Yan Y, et al.

Rice (New York, N.Y.) 2024; (17(1)):46 doi:10.1186/s12284-024-00724-w.

Unmasking the silent culprit: recurrent exercise-induced acute kidney injury in a Chinese adolescent with renal hypouricemia.

Gao Y, Xu L, Wei M, et al.

Renal failure 2024; (46(2)):2373271 doi:10.1080/0886022X.2024.2373271.

Successful Kidney Transplantation in a Young Male with Type 2 Xanthinuria.

Kota M, Madarasu RC, Penmetsa VV, et al.

Indian journal of nephrology 2024; (34(4)):403-405 doi:10.25259/ijn_509_23.

Drug-Induced Hypouricemia.

Ben Salem C, Agrebi M, Sahnoun D, et al.

Drug safety 2025; (48(2)):129-142 doi:10.1007/s40264-024-01485-7.

Functional Food Potential of Chrysanthemum morifolium, Perilla frutescens, and Sophora japonica in Managing Hyperuricemia through Dual Enzyme Inhibition.

Chen KL, Xie DD, Luo MP, et al.

Journal of agricultural and food chemistry 2024; (72(46)):25879-25894 doi:10.1021/acs.jafc.4c05845.

[Analysis of a family with hypouricemia due to type Ⅰ xanthinuria].

Wang XY, Wang YJ, Zhou YK

Zhonghua yi xue za zhi 2024; (104(43)):3985-3988 doi:10.3760/cma.j.cn112137-20240713-01598.

Theobromine for treatment of uric acid stones and other diseases.

Trinchieri A

Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica 2024; (96(4)):13277 doi:10.4081/aiua.2024.13277.

Potential Opportunities for Pharmacogenetic-Based Therapeutic Exploitation of Xanthine Dehydrogenase in Cardiovascular Disease.

Massimo G, Dyson N, Olotu F, et al.

Antioxidants (Basel, Switzerland) 2024; (13(12)) doi:10.3390/antiox13121439.

Early postnatal hepatocyte transplantation in a child with molybdenum cofactor deficiency type B.

Selvanathan A, Kankananarachchi I, Bansal S, et al.

Molecular genetics and metabolism 2025; (145(1)):109079 doi:10.1016/j.ymgme.2025.109079.

A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency.

Cho SK, Schwarz G, Tasic V, et al.

European journal of pediatrics 2025; (184(8)):499 doi:10.1007/s00431-025-06335-x.

[Long-standing myalgia and hypouricemia in a young woman : Case report and review of the literature].

Venyte R, Schuster-Amft C, Behrendt F, et al.

Zeitschrift fur Rheumatologie 2025; (84(9)):746-751 doi:10.1007/s00393-025-01689-x.

XDH-1 inactivation causes xanthine stone formation in Caenorhabditis elegans which is inhibited by SULP-4-mediated anion exchange in the excretory cell.

Snoozy J, Bhattacharya S, Johnson B, et al.

PLoS biology 2025; (23(9)):e3003410 doi:10.1371/journal.pbio.3003410.

The Predictive Accuracy of Hounsfield Units and Urinary pH in the Non-invasive Diagnosis of Radiolucent Urinary Stones.

Hussain M, Alawadi A, Smith Y, et al.

Cureus 2025; (17(9)):e91878 doi:10.7759/cureus.91878.

Clinical and genetic analysis of MOCOS gene-related hypouricemia.

Peng H, Tu P, Ma Q, et al.

Frontiers in genetics 2025; (16()):1636032 doi:10.3389/fgene.2025.1636032.