{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T10:24:29Z","timestamp":1770459869797,"version":"3.49.0"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T00:00:00Z","timestamp":1611705600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T00:00:00Z","timestamp":1611705600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1007\/s13730-021-00572-3","type":"journal-article","created":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T12:03:17Z","timestamp":1611748997000},"page":"378-382","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B"],"prefix":"10.1007","volume":"10","author":[{"given":"Edward Jin","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5629-6520","authenticated-orcid":false,"given":"Raja","family":"Dandamudi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge L.","family":"Granadillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothy Katherine","family":"Grange","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aadil","family":"Kakajiwala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,1,27]]},"reference":[{"key":"572_CR1","first-page":"1","volume":"17","author":"E Bayram","year":"2013","unstructured":"Bayram E, Topcu Y, Karakaya P, Yis U, Cakmakci H, Ichida K, Kurul SH. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). Eur J PaediatrNeurol. 2013;17:1\u20136.","journal-title":"Eur J PaediatrNeurol"},{"key":"572_CR2","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1038\/gim.2015.12","volume":"17","author":"K Mechler","year":"2015","unstructured":"Mechler K, Mountford WK, Hoffmann GF, Ries M. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. Genet Med. 2015;17:965\u201370.","journal-title":"Genet Med"},{"key":"572_CR3","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/humu.21390","volume":"32","author":"J Reiss","year":"2011","unstructured":"Reiss J, Hahnewald R. Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. Hum Mutat. 2011;32:10\u20138.","journal-title":"Hum Mutat"},{"key":"572_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymgme.2015.11.010","volume":"117","author":"PS Atwal","year":"2016","unstructured":"Atwal PS, Scaglia F. Molybdenum cofactor deficiency. Mol Genet Metab. 2016;117:1\u20134.","journal-title":"Mol Genet Metab"},{"key":"572_CR5","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1055\/s-2005-872877","volume":"36","author":"A Macaya","year":"2005","unstructured":"Macaya A, Brunso L, Fernandez-Castillo N, Arranz JA, Ginjaar HB, Cuenca-Leon E, Corominas R, Roig M, Cormand B. Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Neuropediatrics. 2005;36:389\u201394.","journal-title":"Neuropediatrics"},{"key":"572_CR6","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1086\/302296","volume":"64","author":"J Reiss","year":"1999","unstructured":"Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Am J Hum Genet. 1999;64:706\u201311.","journal-title":"Am J Hum Genet"},{"key":"572_CR7","first-page":"714","volume":"20","author":"MS Zaki","year":"2016","unstructured":"Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS. Molybdenum cofactor and isolated sulphite oxidase deficiencies: clinical and molecular spectrum among Egyptian patients. Eur J PaediatrNeurol. 2016;20:714\u201322.","journal-title":"Eur J PaediatrNeurol"},{"key":"572_CR8","doi-asserted-by":"crossref","unstructured":"Rosa Torres Jim\u00e9nez JGP: Purine Metabolism in the Pathogenesis of Hyperuricemia and Inborn Errors of Purine Metabolism Associated With Disease. Gout and Other Crystal Arthropathies. Edited by Terkeltaub R. W.B. Saunders, 2012. pp. 36\u201350.","DOI":"10.1016\/B978-1-4377-2864-4.10003-X"},{"key":"572_CR9","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1136\/bmj.2.5161.1217","volume":"2","author":"CJ Dickinson","year":"1959","unstructured":"Dickinson CJ, Smellie JM. Xanthinuria. Br Med J. 1959;2:1217\u201321.","journal-title":"Br Med J"},{"key":"572_CR10","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1172\/JCI112893","volume":"79","author":"FA Mateos","year":"1987","unstructured":"Mateos FA, Puig JG, Jimenez ML, Fox IH. Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. J Clin Invest. 1987;79:847\u201352.","journal-title":"J Clin Invest"},{"key":"572_CR11","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1172\/JCI105175","volume":"44","author":"S Goldfinger","year":"1965","unstructured":"Goldfinger S, Klinenberg JR, Seegmiller JE. The renal excretion of oxypurines. J Clin Invest. 1965;44:623\u20138.","journal-title":"J Clin Invest"},{"key":"572_CR12","doi-asserted-by":"publisher","first-page":"3715","DOI":"10.1073\/pnas.77.6.3715","volume":"77","author":"JL Johnson","year":"1980","unstructured":"Johnson JL, Waud WR, Rajagopalan KV, Duran M, Beemer FA, Wadman SK. Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc Natl Acad Sci USA. 1980;77:3715\u20139.","journal-title":"Proc Natl Acad Sci USA"},{"key":"572_CR13","volume-title":"Glycogen storage diseases","author":"LA Barness","year":"1996","unstructured":"Barness LA. The metabolic and molecular bases of inherited disease. In: Scriver CR, Beaudet AL, Sly W, Valle D, editors. Glycogen storage diseases. New York: McGraw Hill; 1996."},{"key":"572_CR14","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1016\/0006-2952(66)90163-8","volume":"15","author":"GB Elion","year":"1966","unstructured":"Elion GB, Kovensky A, Hitchings GH. Metabolic studies of allopurinol, an inhibitor of xanthine oxidase. Biochem Pharmacol. 1966;15:863\u201380.","journal-title":"Biochem Pharmacol"},{"key":"572_CR15","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1006\/bbrc.2001.4719","volume":"282","author":"K Ichida","year":"2001","unstructured":"Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T. Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. Biochem Biophys Res Commun. 2001;282:1194\u2013200.","journal-title":"Biochem Biophys Res Commun"},{"key":"572_CR16","doi-asserted-by":"publisher","first-page":"15475","DOI":"10.3390\/ijms131115475","volume":"13","author":"K Ichida","year":"2012","unstructured":"Ichida K, Amaya Y, Okamoto K, Nishino T. Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. Int J Mol Sci. 2012;13:15475\u201395.","journal-title":"Int J Mol Sci"},{"key":"572_CR17","doi-asserted-by":"publisher","first-page":"287","DOI":"10.2169\/internalmedicine1962.29.287","volume":"29","author":"A Nagae","year":"1990","unstructured":"Nagae A, Murakami E, Hiwada K, Sato Y, Kawachi M, Kono N. Asymptomatic hereditary xanthinuria: a case report. Jpn J Med. 1990;29:287\u201391.","journal-title":"Jpn J Med"},{"key":"572_CR18","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1016\/S0022-5347(17)42404-9","volume":"139","author":"J Maynard","year":"1988","unstructured":"Maynard J, Benson P. Hereditary xanthinuria in 2 Pakistani sisters: asymptomatic in one with beta-thalassemia but causing xanthine stone, obstructive uropathy and hypertension in the other. J Urol. 1988;139:338\u20139.","journal-title":"J Urol"},{"key":"572_CR19","first-page":"493","volume":"38","author":"RA Chalmers","year":"1969","unstructured":"Chalmers RA, Johnson M, Pallis C, Watts RW. Xanthinuria with myopathy (with some observations on the renal handling of oxypurines in the disease). Q J Med. 1969;38:493\u2013512.","journal-title":"Q J Med"},{"key":"572_CR20","doi-asserted-by":"publisher","first-page":"1955","DOI":"10.1016\/S0140-6736(15)00124-5","volume":"386","author":"BC Schwahn","year":"2015","unstructured":"Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, Hennermann JB, Jameson E, Konig K, McGregor TL, Font-Montgomery E, Santamaria-Araujo JA, Santra S, Vaidya M, Vierzig A, Wassmer E, Weis I, Wong FY, Veldman A, Schwarz G. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. Lancet. 2015;386:1955\u201363.","journal-title":"Lancet"},{"key":"572_CR21","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1086\/316941","volume":"68","author":"J Reiss","year":"2001","unstructured":"Reiss J, Gross-Hardt S, Christensen E, Schmidt P, Mendel RR, Schwarz G. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am J Hum Genet. 2001;68:208\u201313.","journal-title":"Am J Hum Genet"},{"key":"572_CR22","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1111\/j.1399-0004.2011.01709.x","volume":"80","author":"J Reiss","year":"2011","unstructured":"Reiss J, Lenz U, Aquaviva-Bourdain C, Joriot-Chekaf S, Mention-Mulliez K, Holder-Espinasse M. A GPHN point mutation leading to molybdenum cofactor deficiency. Clin Genet. 2011;80:598\u20139.","journal-title":"Clin Genet"},{"key":"572_CR23","doi-asserted-by":"publisher","first-page":"1601","DOI":"10.1002\/ajmg.a.38240","volume":"173","author":"JGM Huijmans","year":"2017","unstructured":"Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS. Molybdenum cofactor deficiency: identification of a patient with homozygote mutation in the MOCS3 gene. Am J Med Genet A. 2017;173:1601\u20136.","journal-title":"Am J Med Genet A"},{"key":"572_CR24","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1542\/peds.2004-1897","volume":"116","author":"WH Tan","year":"2005","unstructured":"Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005;116:757\u201366.","journal-title":"Pediatrics"},{"key":"572_CR25","doi-asserted-by":"publisher","first-page":"4365","DOI":"10.1172\/JCI89885","volume":"127","author":"A Kumar","year":"2017","unstructured":"Kumar A, Dejanovic B, Hetsch F, Semtner M, Fusca D, Arjune S, Santamaria-Araujo JA, Winkelmann A, Ayton S, Bush AI, Kloppenburg P, Meier JC, Schwarz G, Belaidi AA. S-sulfocysteine\/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency. J Clin Invest. 2017;127:4365\u201378.","journal-title":"J Clin Invest"},{"key":"572_CR26","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/ana.410350216","volume":"35","author":"JM Rho","year":"1994","unstructured":"Rho JM, Donevan SD, Rogawski MA. Mechanism of action of the anticonvulsant felbamate: opposing effects on N-methyl-D-aspartate and gamma-aminobutyric acidA receptors. Ann Neurol. 1994;35:229\u201334.","journal-title":"Ann Neurol"},{"key":"572_CR27","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1007\/s10545-012-9466-1","volume":"35","author":"PB Mills","year":"2012","unstructured":"Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. J Inherit Metab Dis. 2012;35:1031\u20136.","journal-title":"J Inherit Metab Dis"},{"key":"572_CR28","doi-asserted-by":"publisher","first-page":"e1716","DOI":"10.1542\/peds.2012-1094","volume":"130","author":"EA Struys","year":"2012","unstructured":"Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B. Pyridoxine-dependent epilepsy with elevated urinary alpha-amino adipic semialdehyde in molybdenum cofactor deficiency. Pediatrics. 2012;130:e1716\u20139.","journal-title":"Pediatrics"},{"key":"572_CR29","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1016\/j.ymgme.2007.04.016","volume":"91","author":"EA Struys","year":"2007","unstructured":"Struys EA, Jakobs C. Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2007;91:405.","journal-title":"Mol Genet Metab"},{"key":"572_CR30","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O\u2019Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG, Exome Aggregation C. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285\u201391.","journal-title":"Nature"},{"key":"572_CR31","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Genome Aggregation Database C, Neale BM, Daly MJ, MacArthur DG","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O\u2019Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Genome Aggregation Database C, Neale BM, Daly MJ, MacArthur DG. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434\u201343.","journal-title":"Nature"},{"key":"572_CR32","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1002\/humu.10223","volume":"21","author":"J Reiss","year":"2003","unstructured":"Reiss J, Johnson JL. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Hum Mutat. 2003;21:569\u201376.","journal-title":"Hum Mutat"},{"key":"572_CR33","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1016\/0002-9343(68)90210-6","volume":"45","author":"JE Seegmiller","year":"1968","unstructured":"Seegmiller JE. Xanthine stone formation. Am J Med. 1968;45:780\u20133.","journal-title":"Am J Med"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-021-00572-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-021-00572-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-021-00572-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T07:17:18Z","timestamp":1625815038000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-021-00572-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,27]]},"references-count":33,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["572"],"URL":"https:\/\/doi.org\/10.1007\/s13730-021-00572-3","relation":{},"ISSN":["2192-4449"],"issn-type":[{"value":"2192-4449","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,27]]},"assertion":[{"value":"28 October 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 January 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 January 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors have no conflicts of interest relevant to this article to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}