{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T01:51:20Z","timestamp":1778896280990,"version":"3.51.4"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":2531,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2019,2,13]],"date-time":"2019-02-13T00:00:00Z","timestamp":1550016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1K01OD019912-03"],"award-info":[{"award-number":["1K01OD019912-03"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1K01OD019912\u201003"],"award-info":[{"award-number":["1K01OD019912\u201003"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A 2-year-old mixed breed goat was presented for a 1-day history of anorexia and 1\u2009week of weight loss. Serum biochemistry disclosed severe azotemia. Abdominal ultrasound examination showed decreased renal corticomedullary distinction, poor visualization of the renal pelves, and dilated ureters. On necropsy, the kidneys were small, the pelves were dilated, and the medulla was partially effaced by variably sized yellow nephroliths. Histologically, cortical and medullary tubules were distended by yellow-brown, multilayered crystals. Stone composition was 100% xanthine. Exonic sequencing of xanthine dehydrogenase (XDH) and molybdenum cofactor sulfurase (MOCOS) identified 2 putative pathogenic variants: a heterozygous XDH p.Leu128Pro variant and a homozygous MOCOS p.Asp303Gly variant. Variant frequencies were determined in 7 herd mates, 12 goats undergoing necropsy, and 443 goats from genome databases. The XDH variant was not present in any of these 462 goats. The MOCOS variant allele frequency was 0.03 overall, with 3 homozygotes detected. Hereditary xanthinuria is a recessive disorder in other species, but the XDH variant could be causal if the case goat is a compound heterozygote harboring a second variant in a regulatory region not analyzed or if the combination of the XDH and MOCOS variants together abolish XDH activity. Alternatively, the MOCOS variant alone could be causal despite the presence of other homozygotes, because hereditary xanthinuria in humans often is asymptomatic. Ours is the first report describing the clinical presentation and pathology associated with xanthine urolithiasis in a goat. The data support hereditary xanthinuria, but functional studies are needed to conclusively determine the causal variant(s).<\/jats:p>","DOI":"10.1111\/jvim.15431","type":"journal-article","created":{"date-parts":[[2019,2,13]],"date-time":"2019-02-13T12:43:20Z","timestamp":1550061800000},"page":"1009-1014","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Hereditary xanthinuria in a goat"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1964-7985","authenticated-orcid":false,"given":"Krystal J.","family":"Vail","sequence":"first","affiliation":[{"name":"College of Veterinary Medicine and Biomedical Sciences, Texas A&M University Department of Veterinary Pathobiology, , Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole M.","family":"Tate","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota Department of Veterinary Clinical Sciences, , St. Paul, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tasha","family":"Likavec","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine and Biomedical Sciences, Texas A&M University Department of Large Animal Clinical Sciences, , Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katie M.","family":"Minor","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota Department of Veterinary Clinical Sciences, , St. Paul, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippa M.","family":"Gibbons","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine and Biomedical Sciences, Texas A&M University Department of Large Animal Clinical Sciences, , Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel R.","family":"Rech","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine and Biomedical Sciences, Texas A&M University Department of Veterinary Pathobiology, , Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Furrow","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota Department of Veterinary Clinical Sciences, , St. Paul, Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,3,1]]},"reference":[{"key":"2026020922231442900_jvim15431-bib-0001","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.vetpar.2004.06.005","article-title":"Validation of the FAMACHA\u00a9 eye color chart for detecting clinical anemia on sheep and goat farms in the southern United States","volume":"123","author":"Kaplan","year":"2004","journal-title":"Vet Parasitol"},{"key":"2026020922231442900_jvim15431-bib-0002","doi-asserted-by":"crossref","first-page":"1084.e9","DOI":"10.1016\/j.urology.2005.10.057","article-title":"Xanthine urolithiasis","volume":"67","author":"Pais","year":"2006","journal-title":"Urology"},{"key":"2026020922231442900_jvim15431-bib-0003","doi-asserted-by":"crossref","first-page":"15475","DOI":"10.3390\/ijms131115475","article-title":"Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans","volume":"13","author":"Ichida","year":"2012","journal-title":"Int J Mol Sci"},{"key":"2026020922231442900_jvim15431-bib-0004","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1136\/vr.101056","article-title":"Recent shifts in the global proportions of canine uroliths","volume":"172","author":"Lulich","year":"2013","journal-title":"Vet Rec"},{"key":"2026020922231442900_jvim15431-bib-0005","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"2026020922231442900_jvim15431-bib-0006","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1093\/bioinformatics\/btq330","article-title":"Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor","volume":"26","author":"McLaren","year":"2010","journal-title":"Bioinformatics"},{"key":"2026020922231442900_jvim15431-bib-0007","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"2026020922231442900_jvim15431-bib-0008","first-page":"134981","article-title":"MutPred2: inferring the molecular and phenotypic impact of amino acid variants","author":"Pejaver","year":"2017","journal-title":"bioRxiv"},{"key":"2026020922231442900_jvim15431-bib-0009","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/humu.21445","article-title":"Performance of mutation pathogenicity prediction methods on missense variants","volume":"32","author":"Thusberg","year":"2011","journal-title":"Hum Mutat"},{"key":"2026020922231442900_jvim15431-bib-0010","doi-asserted-by":"crossref","first-page":"D190","DOI":"10.1093\/nar\/gkw1107","article-title":"InterPro in 2017 \u2014 beyond protein family and domain annotations","volume":"45","author":"Finn","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"2026020922231442900_jvim15431-bib-0011","doi-asserted-by":"crossref","first-page":"D764","DOI":"10.1093\/nar\/gkt1168","article-title":"The UCSC Genome Browser database: 2014 update","volume":"42","author":"Karolchik","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"2026020922231442900_jvim15431-bib-0012","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1186\/1471-2105-11-293","article-title":"Ensembl variation resources","volume":"11","author":"Chen","year":"2010","journal-title":"BMC Bioinformatics"},{"key":"2026020922231442900_jvim15431-bib-0013","doi-asserted-by":"crossref","first-page":"D754","DOI":"10.1093\/nar\/gkx1098","article-title":"Ensembl 2018","volume":"46","author":"Zerbino","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2026020922231442900_jvim15431-bib-0014","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1007\/s13730-016-0216-3","article-title":"A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase","volume":"5","author":"Iguchi","year":"2016","journal-title":"CEN Case Rep"},{"key":"2026020922231442900_jvim15431-bib-0015","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1080\/00288233.1958.10431529","article-title":"Molybdenum in relation to the occurrence of xanthin calculi in sheep","volume":"1","author":"Askew","year":"1958","journal-title":"New Zeal J Agr Res"},{"key":"2026020922231442900_jvim15431-bib-0016","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1748-5827.1997.tb03470.x","article-title":"Naturally occurring xanthine urolithiasis in a domestic shorthair cat","volume":"38","author":"White","year":"1997","journal-title":"J Small Anim Pract"},{"key":"2026020922231442900_jvim15431-bib-0017","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/j.jfms.2007.03.012","article-title":"Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase","volume":"9","author":"Tsuchida","year":"2007","journal-title":"J Feline Med Surg"},{"key":"2026020922231442900_jvim15431-bib-0018","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1177\/1098612X13477413","article-title":"Xanthine urolithiasis causing bilateral ureteral obstruction in a 10-month-old cat","volume":"15","author":"Mestrinho","year":"2013","journal-title":"J Feline Med Surg"},{"key":"2026020922231442900_jvim15431-bib-0019","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1007\/s00580-015-2072-5","article-title":"Hereditary xanthinuria and urolithiasis in a domestic shorthair cat","volume":"24","author":"Furman","year":"2015","journal-title":"Comp Clin Path"},{"key":"2026020922231442900_jvim15431-bib-0020","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/vr.83.9.228","article-title":"Xanthine calculi in a dog","volume":"83","author":"Kidder","year":"1968","journal-title":"Vet Rec"},{"key":"2026020922231442900_jvim15431-bib-0021","first-page":"1449","article-title":"Xanthine urinary lithiasis and xanthinuria in a dachshund. Deficiency, probably genetic, of the xanthine oxidase system","volume":"269","author":"Delbarre","year":"1969","journal-title":"C R Acad Sci Hebd Seances Acad Sci D"},{"key":"2026020922231442900_jvim15431-bib-0022","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1080\/01652176.1997.9694766","article-title":"Xanthinuria in a family of Cavalier king Charles Spaniels","volume":"19","author":"van Zuilen","year":"1997","journal-title":"Vet Q"},{"key":"2026020922231442900_jvim15431-bib-0023","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1111\/j.1748-5827.1997.tb03471.x","article-title":"Bilateral xanthine nephrolithiasis in a dog","volume":"38","author":"Kucera","year":"1997","journal-title":"J Small Anim Pract"},{"key":"2026020922231442900_jvim15431-bib-0024","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1136\/vr.143.15.420","article-title":"Xanthine urolithiasis in a dachshund","volume":"143","author":"Flegel","year":"1998","journal-title":"Vet Rec"},{"key":"2026020922231442900_jvim15431-bib-0025","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/vr.d3932","article-title":"Xanthine urolithiasis in a Cavalier King Charles Spaniel","volume":"169","author":"Gow","year":"2011","journal-title":"Vet Rec"},{"key":"2026020922231442900_jvim15431-bib-0026","doi-asserted-by":"crossref","first-page":"163","DOI":"10.2527\/jas2016.94supplement4163a","article-title":"P6030 Three diverse mutations underlying canine xanthine urolithiasis","volume":"94","author":"Tate","year":"2016","journal-title":"J Anim Sci"},{"key":"2026020922231442900_jvim15431-bib-0027","doi-asserted-by":"crossref","first-page":"21789","DOI":"10.1074\/jbc.C000230200","article-title":"Deletion mutation in Drosophila ma-l homologous, putative molybdopterin cofactor sulfurase gene is associated with bovine xanthinuria type II","volume":"275","author":"Watanabe","year":"2000","journal-title":"J Biol Chem"},{"key":"2026020922231442900_jvim15431-bib-0028","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1292\/jvms.09-0494","article-title":"Xanthine nephrolithiasis in a galician blond beef calf","volume":"72","author":"Miranda","year":"2010","journal-title":"J Vet Med Sci"},{"key":"2026020922231442900_jvim15431-bib-0029","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1186\/s12917-016-0904-4","article-title":"A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle","volume":"12","author":"Murgiano","year":"2016","journal-title":"BMC Vet Res"},{"key":"2026020922231442900_jvim15431-bib-0030","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1111\/jvim.14743","article-title":"Mineral composition of uroliths obtained from sheep and goats with obstructive urolithiasis","volume":"31","author":"Jones","year":"2017","journal-title":"J Vet Intern Med"},{"key":"2026020922231442900_jvim15431-bib-0031","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.cvsm.2008.09.005","article-title":"Quantitative analysis of 4468 uroliths retrieved from farm animals, exotic species, and wildlife submitted to the Minnesota Urolith Center: 1981 to 2007","volume":"39","author":"Osborne","year":"2009","journal-title":"Vet Clin North Am Small Anim Pract"},{"key":"2026020922231442900_jvim15431-bib-0032","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/0009-8981(90)90158-O","article-title":"Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria","volume":"188","author":"Kawachi","year":"1990","journal-title":"Clin Chim Acta"},{"key":"2026020922231442900_jvim15431-bib-0033","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1080\/15257770.2018.1460478","article-title":"Hereditary xanthinuria is not so rare disorder of purine metabolism","volume":"37","author":"Sebesta","year":"2018","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"2026020922231442900_jvim15431-bib-0034","first-page":"330","article-title":"Asymptomatic classical hereditary xanthinuria type 1","volume":"151","author":"Yakubov","year":"2012","journal-title":"Harefuah"},{"key":"2026020922231442900_jvim15431-bib-0035","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1007\/s00467-006-0267-3","article-title":"Xanthinuria type I: a rare cause of urolithiasis","volume":"22","author":"Arikyants","year":"2007","journal-title":"Pediatr Nephrol"}],"container-title":["Journal of Veterinary Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjvim.15431","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jvim.15431","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jvim.15431","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jvim\/article-pdf\/33\/2\/1009\/66659792\/jvim15431.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jvim\/article-pdf\/33\/2\/1009\/66659792\/jvim15431.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T03:36:23Z","timestamp":1770694583000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jvim\/article\/33\/2\/1009\/8448139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,1]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,3,1]]}},"URL":"https:\/\/doi.org\/10.1111\/jvim.15431","relation":{},"ISSN":["1939-1676"],"issn-type":[{"value":"1939-1676","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,3]]},"published":{"date-parts":[[2019,3,1]]},"assertion":[{"value":"2018-08-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-02-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}