{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T13:46:23Z","timestamp":1791639983449,"version":"4.3.4"},"reference-count":71,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T00:00:00Z","timestamp":1655078400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T00:00:00Z","timestamp":1655078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis than those with other PH types, despite the same extent of oxalate excretion. The relation between genotype and clinical phenotype in PH1 is extremely heterogeneous with respect to age of first symptoms and development of kidney failure. Some mutations are significantly linked to pyridoxine-sensitivity in PH1, such as homozygosity for p.G170R and p.F152I combined with a common polymorphism. Although patients with these mutations display on average better outcomes, they may also present with CKD stage 5 in infancy. In vitro studies suggest pyridoxine-sensitivity for some other mutations, but confirmatory clinical data are lacking (p.G47R, p.G161R, p.I56N\/major allele) or scarce (p.I244T). These studies also suggest that other vitamin B6 derivatives than pyridoxine may be more effective and should be a focus for clinical testing. PH patients displaying the same mutation, even within one family, may have completely different clinical outcomes. This discordance may be caused by environmental or genetic factors that are unrelated to the effect of the causative mutation(s). No relation between genotype and clinical or biochemical phenotypes have been found so far in PH types 2 and 3. This manuscript reviews the current knowledge on the genetic background of the three types of primary hyperoxaluria and its impact on clinical management, including prenatal diagnosis.<\/jats:p>","DOI":"10.1007\/s00467-022-05613-2","type":"journal-article","created":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T07:04:09Z","timestamp":1655103849000},"page":"625-634","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Genetic assessment in primary hyperoxaluria: why it matters"],"prefix":"10.1007","volume":"38","author":[{"given":"Giorgia","family":"Mandrile","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodo","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile","family":"Acquaviva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gill","family":"Rumsby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Deesker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sander","family":"Garrelfs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asheeta","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Bacchetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-3506","authenticated-orcid":false,"given":"Jaap","family":"Groothoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the OxalEurope Consortium\/Erknet Guideline Workgroup On Hyperoxaluria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,13]]},"reference":[{"key":"5613_CR1","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1038\/ki.2014.222","volume":"86","author":"G Mandrile","year":"2014","unstructured":"Mandrile G, van Woerden CS, Berchialla P, Beck BB, AcquavivaBourdain C, Hulton SA, Rumsby G, OxalEurope Consortium (2014) Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int 86:1197\u20131204","journal-title":"Kidney Int"},{"key":"5613_CR2","doi-asserted-by":"publisher","first-page":"2559","DOI":"10.1681\/ASN.2014070698","volume":"26","author":"K Hopp","year":"2015","unstructured":"Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC (2015) Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol 26:2559\u20132570","journal-title":"J Am Soc Nephrol"},{"key":"5613_CR3","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.bone.2015.07.010","volume":"81","author":"J Bacchetta","year":"2015","unstructured":"Bacchetta J, Farlay D, Abelin-Genevois K, Lebourg L, Cochat P, Boivin G (2015) Bone impairment in oxalosis: an ultrastructural bone analysis. Bone 81:161\u2013167","journal-title":"Bone"},{"key":"5613_CR4","doi-asserted-by":"publisher","first-page":"2403","DOI":"10.1253\/circj.CJ-10-0107","volume":"74","author":"F Mookadam","year":"2010","unstructured":"Mookadam F, Smith T, Jiamsripong P, Moustafa SE, Monico CG, Lieske JC, Milliner DS (2010) Cardiac abnormalities in primary hyperoxaluria. Circ J 74:2403\u20132409","journal-title":"Circ J"},{"key":"5613_CR5","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1002\/mus.24495","volume":"51","author":"SE Berini","year":"2015","unstructured":"Berini SE, Tracy JA, Engelstad JK, Lorenz EC, Milliner DS, Dyck PJ (2015) Progressive polyradiculoneuropathy due to intraneural oxalate deposition in type 1 primary hyperoxaluria. Muscle Nerve 51:449\u2013454","journal-title":"Muscle Nerve"},{"key":"5613_CR6","doi-asserted-by":"publisher","first-page":"1216","DOI":"10.1056\/NEJMoa2021712","volume":"384","author":"SF Garrelfs","year":"2021","unstructured":"Garrelfs SF, Frishberg Y, Hulton SA, Koren MJ, O\u2019Riordan WD, Cochat P, Deschenes G, Shasha-Lavsky H, Saland JM, Van\u2019t Hoff WG, Fuster DG, Magen D, Moochhala SH, Schalk G, Simkova E, Groothoff JW, Sas DJ, Meliambro KA, Lu J, Sweetser MT, Garg PP, Vaishnaw AK, Gansner JM, McGregor TL, Lieske JC, ILLUMINATE-A Collaborators (2021) Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1. N Engl J Med 384:1216\u20131226","journal-title":"N Engl J Med"},{"key":"5613_CR7","doi-asserted-by":"publisher","unstructured":"Deesker LJ, Garrelfs SF, Mandrile G, Oosterveld MJS, Cochat P, Desch\u00eanes G, Harambat J, Hulton S-A, Gupta A, Hoppe B, Beck BB, Collard L, Topaloglu R, Prikhodina L, Salido E, Neuhaus T, Groothoff JW, Bacchetta J (2022) Improved outcome of infantile oxalosis over time in Europe: data from the OxalEurope Registry. Kidney Int Rep. https:\/\/doi.org\/10.1016\/j.ekir.2022.04.012","DOI":"10.1016\/j.ekir.2022.04.012"},{"key":"5613_CR8","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1007\/s00240-016-0860-2","volume":"44","author":"O Clifford-Mobley","year":"2016","unstructured":"Clifford-Mobley O, Sj\u00f6gren A, Lindner E, Rumsby G (2016) Urine oxalate biological variation in patients with primary hyperoxaluria. Urolithiasis 44:333\u2013337","journal-title":"Urolithiasis"},{"key":"5613_CR9","first-page":"473","volume":"48","author":"F Stokes","year":"2020","unstructured":"Stokes F, Acquaviva-Bourdain C, Hoppe B, Lieske JC, Lindner E, Toulson G, Vaz FM, Rumsby G (2020) Plasma Oxalate. Urolithiasis 48:473\u2013480","journal-title":"Plasma Oxalate Com Methodol Urolithias"},{"key":"5613_CR10","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1056\/NEJMra1301564","volume":"369","author":"P Cochat","year":"2013","unstructured":"Cochat P, Rumsby G (2013) Primary hyperoxaluria. N Engl J Med 369:649\u2013658","journal-title":"N Engl J Med"},{"key":"5613_CR11","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/0014-5793(86)80563-4","volume":"201","author":"CJ Danpure","year":"1986","unstructured":"Danpure CJ, Jennings PR (1986) Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett 201:20\u201324","journal-title":"FEBS Lett"},{"key":"5613_CR12","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/0888-7543(91)90481-S","volume":"10","author":"PE Purdue","year":"1991","unstructured":"Purdue PE, Lumb MJ, Fox M, Griffo G, Hamon-Benais C, Povey S, Danpure CJ (1991) Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. Genomics 10:34\u201342","journal-title":"Genomics"},{"key":"5613_CR13","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1016\/j.bbadis.2012.03.004","volume":"1822","author":"E Salido","year":"2012","unstructured":"Salido E, Pey AL, Rodriguez R, Lorenzo V (2012) Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochim Biophys Acta 1822:1453\u20131464","journal-title":"Biochim Biophys Acta"},{"key":"5613_CR14","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1016\/S0272-6386(12)80624-X","volume":"17","author":"CJ Danpure","year":"1991","unstructured":"Danpure CJ (1991) Molecular and clinical heterogeneity in primary hyperoxaluria type 1. Am J Kidney Dis 17:366\u2013369","journal-title":"Am J Kidney Dis"},{"key":"5613_CR15","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1016\/j.ajo.2019.04.036","volume":"206","author":"J Birtel","year":"2019","unstructured":"Birtel J, Herrmann P, Garrelfs SF, Dulz S, Atiskova Y, Diederen RM, Gliem M, Brinkert F, Holz FG, Boon CJF, Hoppe B, Charbel Issa P (2019) The ocular phenotype in primary hyperoxaluria type 1. Am J Ophthalmol 206:184\u2013191","journal-title":"Am J Ophthalmol"},{"key":"5613_CR16","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1023\/A:1005326510239","volume":"20","author":"AC Tarn","year":"1997","unstructured":"Tarn AC, von Schnakenburg C, Rumsby G (1997) Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT). J Inherit Metab Dis 20:689\u2013696","journal-title":"J Inherit Metab Dis"},{"key":"5613_CR17","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/S0009-8981(97)00165-4","volume":"266","author":"JM Leiper","year":"1997","unstructured":"Leiper JM, Danpure CJ (1997) A unique molecular basis for enzyme mistargeting in primary hyperoxaluria type 1. Clin Chim Acta 266:39\u201350","journal-title":"Clin Chim Acta"},{"key":"5613_CR18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1017\/S1462399404007203","volume":"6","author":"CJ Danpure","year":"2004","unstructured":"Danpure CJ, Rumsby G (2004) Molecular aetiology of primary hyperoxaluria and its implications for clinical management. Expert Rev Mol Med 6:1\u201316","journal-title":"Expert Rev Mol Med"},{"key":"5613_CR19","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1002\/humu.21021","volume":"30","author":"EL Williams","year":"2009","unstructured":"Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G (2009) Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat 30:910\u2013917","journal-title":"Hum Mutat"},{"key":"5613_CR20","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1111\/j.1523-1755.2004.00842.x","volume":"66","author":"G Rumsby","year":"2004","unstructured":"Rumsby G, Williams E, Coulter-Mackie MB (2004) Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int 66:959\u2013963","journal-title":"Kidney Int"},{"key":"5613_CR21","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1038\/ki.2009.435","volume":"77","author":"J Harambat","year":"2010","unstructured":"Harambat J, Fargue S, Acquaviva C, Gagnadoux M-F, Janssen F, Liutkus A, Mourani C, Macher MA, Abramowicz D, Legendre C, Durrbach A, Tsimaratos M, Nivet H, Girardin E, Schott A-M, Rolland M-O, Cochat P (2010) Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int 77:443\u2013449","journal-title":"Kidney Int"},{"key":"5613_CR22","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1007\/s40620-016-0287-4","volume":"30","author":"A Pelle","year":"2017","unstructured":"Pelle A, Cuccurullo A, Mancini C, Sebastiano R, Stallone G, Negrisolo S, Benetti E, Peruzzi L, Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G (2017) Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. J Nephrol 30:219\u2013225","journal-title":"J Nephrol"},{"key":"5613_CR23","doi-asserted-by":"publisher","first-page":"10900","DOI":"10.1073\/pnas.88.23.10900","volume":"88","author":"PE Purdue","year":"1991","unstructured":"Purdue PE, Allsop J, Isaya G, Rosenberg LE, Danpure CJ (1991) Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc Natl Acad Sci U S A 88:10900\u201310904","journal-title":"Proc Natl Acad Sci U S A"},{"key":"5613_CR24","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1089\/gtmb.2015.0136","volume":"19","author":"L Boualla","year":"2015","unstructured":"Boualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A (2015) AGXT gene mutations and prevalence of primary hyperoxaluria type 1 in Moroccan population. Genet Test Mol Biomarkers 19:623\u2013628","journal-title":"Genet Test Mol Biomarkers"},{"key":"5613_CR25","doi-asserted-by":"publisher","first-page":"7277","DOI":"10.1073\/pnas.1131968100","volume":"100","author":"A Santana","year":"2003","unstructured":"Santana A, Salido E, Torres A, Shapiro L (2003) Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proc Natl Acad Sci U S A 100:7277\u20137282","journal-title":"Proc Natl Acad Sci U S A"},{"key":"5613_CR26","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1007\/s00240-020-01201-x","volume":"49","author":"F Zhao","year":"2021","unstructured":"Zhao F, Li J, Tang L, Li C, Wang W, Ning C (2021) Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations. Urolithiasis 49:17\u201325","journal-title":"Urolithiasis"},{"key":"5613_CR27","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/s00240-017-0996-8","volume":"46","author":"JJ Talati","year":"2018","unstructured":"Talati JJ, Hulton SA, Garrelfs SF, Aziz W, Rao S, Memon A, Nazir Z, Biyabani R, Qazi S, Azam I, Khan AH, Ahmed J, Jafri L, Zeeshan M (2018) Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries. Urolithiasis 46:187\u2013195","journal-title":"Urolithiasis"},{"key":"5613_CR28","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1007\/s11596-018-1941-y","volume":"38","author":"DF Du","year":"2018","unstructured":"Du DF, Li QQ, Chen C, Shi SM, Zhao YY, Jiang JP, Wang DW, Guo H, Zhang WJ, Chen ZS (2018) Updated genetic testing of primary hyperoxaluria type 1 in a Chinese population: results from a single center study and a systematic review. Curr Med Sci 38:749\u2013757","journal-title":"Curr Med Sci"},{"key":"5613_CR29","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1093\/ndt\/gfs078","volume":"27","author":"P Cochat","year":"2012","unstructured":"Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff JW, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Pica S, Rumsby G, Salido E, Straub M, van Woerden CS, OxalEurope, (2012) Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 27:1729\u20131736","journal-title":"Nephrol Dial Transplant"},{"key":"5613_CR30","doi-asserted-by":"publisher","first-page":"468","DOI":"10.2215\/CJN.06820613","volume":"9","author":"H Hoyer-Kuhn","year":"2014","unstructured":"Hoyer-Kuhn H, Kohbrok S, Volland R, Franklin J, Hero B, Beck BB, Hoppe B (2014) Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. Clin J Am Soc Nephrol 9:468\u2013477","journal-title":"Clin J Am Soc Nephrol"},{"key":"5613_CR31","first-page":"49","volume":"11","author":"C Toussaint","year":"1998","unstructured":"Toussaint C (1998) Pyridoxine-responsive PH1: treatment. J Nephrol 11:49\u201350","journal-title":"J Nephrol"},{"key":"5613_CR32","doi-asserted-by":"publisher","first-page":"1776","DOI":"10.1016\/j.bbadis.2013.04.010","volume":"1832","author":"S Fargue","year":"2013","unstructured":"Fargue S, Rumsby G, Danpure CJ (2013) Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. Biochim Biophys Acta 1832:1776\u20131783","journal-title":"Biochim Biophys Acta"},{"key":"5613_CR33","doi-asserted-by":"publisher","first-page":"8349","DOI":"10.1074\/jbc.M808965200","volume":"284","author":"B Cellini","year":"2009","unstructured":"Cellini B, Montioli R, Paiardini A, Lorenzetto A, Voltattorni CB (2009) Molecular insight into the synergism between the minor allele of human liver peroxisomal alanine:glyoxylate aminotransferase and the F152I mutation. J Biol Chem 284:8349\u20138358","journal-title":"J Biol Chem"},{"key":"5613_CR34","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/j.clinbiochem.2013.11.021","volume":"47","author":"B Cellini","year":"2014","unstructured":"Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB (2014) The chaperone role of the pyridoxal 5\u2019-phosphate and its implications for rare diseases involving B6-dependent enzymes. Clin Biochem 47:158\u2013165","journal-title":"Clin Biochem"},{"key":"5613_CR35","doi-asserted-by":"publisher","first-page":"e71963","DOI":"10.1371\/journal.pone.0071963","volume":"8","author":"N Mesa-Torres","year":"2013","unstructured":"Mesa-Torres N, Fabelo-Rosa I, Riverol D, Yunta C, Albert A, Salido E, Pey AL (2013) The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I. PLoS One 8:e71963","journal-title":"PLoS ONE"},{"key":"5613_CR36","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.biochi.2016.10.001","volume":"131","author":"M Dindo","year":"2016","unstructured":"Dindo M, Montioli R, Busato M, Giorgetti A, Cellini B, Borri Voltattorni C (2016) Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T. Biochimie 131:137\u2013148","journal-title":"Biochimie"},{"key":"5613_CR37","doi-asserted-by":"crossref","first-page":"3739","DOI":"10.1111\/febs.14269","volume":"284","author":"M Dindo","year":"2017","unstructured":"Dindo M, Conter C, Cellini B (2017) Electrostatic interactions drive native-like aggregation of human alanine:glyoxylate aminostransferase. FEBS J 284:3739\u20133764","journal-title":"FEBS J"},{"key":"5613_CR38","doi-asserted-by":"publisher","first-page":"1704","DOI":"10.1111\/j.1523-1755.2005.00267.x","volume":"67","author":"CG Monico","year":"2005","unstructured":"Monico CG, Rossetti S, Olson JB, Milliner DS (2005) Pyridoxine effect in type 1 primary hyperoxaluria is associated with the most common mutant allele. Kidney Int 67:1704\u20131709","journal-title":"Kidney Int"},{"key":"5613_CR39","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1111\/j.1523-1755.2004.00796.x","volume":"66","author":"CS van Woerden","year":"2004","unstructured":"van Woerden CS, Groothoff JW, Wijburg FA, Annink C, Wanders RJ, Waterham HR (2004) Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int 66:746\u2013752","journal-title":"Kidney Int"},{"key":"5613_CR40","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1016\/j.ekir.2021.11.006","volume":"7","author":"EL Metry","year":"2022","unstructured":"Metry EL, Garrelfs SF, Peters-Sengers H, Hulton S-A, Acquaviva C, Bacchetta J, Beck BB, Collard L, Desch\u00eanes G, Franssen C, Kemper MJ, Lipkin GW, Mandrile G, Mohebbi N, Moochhala SH, Oosterveld MJS, Prikhodina L, Hoppe B, Cochat P, Groothoff JW (2022) Long-term transplantation outcomes in patients with primary hyperoxaluria type 1 included in the European Hyperoxaluria Consortium (OxalEurope) Registry. Kidney Int Rep 7:210\u2013220","journal-title":"Kidney Int Rep"},{"key":"5613_CR41","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1053\/j.ajkd.2020.07.017","volume":"77","author":"EC Lorenz","year":"2021","unstructured":"Lorenz EC, Lieske JC, Seide BM, Olson JB, Mehta R, Milliner DS (2021) Recovery from dialysis in patients with primary hyperoxaluria type 1 treated with pyridoxine: a report of 3 cases. Am J Kidney Dis 77:816\u2013819","journal-title":"Am J Kidney Dis"},{"key":"5613_CR42","doi-asserted-by":"publisher","first-page":"3175","DOI":"10.1681\/ASN.2021060729","volume":"32","author":"S Garrelfs","year":"2021","unstructured":"Garrelfs S, van Harskamp D, Peters-Sengers H, van den Akker C, Wanders R, Wijburg F, van Goudoever J, Groothoff J, Schierbeek H, Oosterveld M (2021) Endogenous oxalate production in primary hyperoxaluria type 1 patients. J Am Soc Nephrol 32:3175\u20133186","journal-title":"J Am Soc Nephrol"},{"key":"5613_CR43","doi-asserted-by":"publisher","first-page":"1280","DOI":"10.1016\/j.bbapap.2015.07.002","volume":"1854","author":"R Montioli","year":"2015","unstructured":"Montioli R, Oppici E, Dindo M, Roncador A, Gotte G, Cellini B, Borri Voltattorni C (2015) Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine. Biochim Biophys Acta 1854:1280\u20131289","journal-title":"Biochim Biophys Acta"},{"key":"5613_CR44","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.ymgme.2020.07.012","volume":"131","author":"M Dindo","year":"2020","unstructured":"Dindo M, Mandrile G, Conter C, Montone R, Giachino D, Pelle A, Costantini C, Cellini B (2020) The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: clinical features and biochemical characterization. Mol Genet Metab 131:171\u2013180","journal-title":"Mol Genet Metab"},{"key":"5613_CR45","doi-asserted-by":"publisher","first-page":"2277","DOI":"10.1016\/j.bbadis.2013.09.002","volume":"1832","author":"E Oppici","year":"2013","unstructured":"Oppici E, Roncador A, Montioli R, Bianconi S, Cellini B (2013) Gly161 mutations associated with primary hyperoxaluria type 1 induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase. Biochim Biophys Acta 1832:2277\u20132288","journal-title":"Biochim Biophys Acta"},{"key":"5613_CR46","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1038\/sj.ki.5001758","volume":"70","author":"V Lorenzo","year":"2006","unstructured":"Lorenzo V, Alvarez A, Torres A, Torregrosa V, Hernandez D, Salido E (2006) Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: single-center experience. Kidney Int 70:1115\u20131119","journal-title":"Kidney Int"},{"key":"5613_CR47","doi-asserted-by":"publisher","first-page":"19.136","DOI":"10.7812\/TPP\/19.136","volume":"24","author":"PG Medina","year":"2020","unstructured":"Medina PG, Roman LE (2020) Importance of assessing compliance with conservative treatment of primary hyperoxaluria type 1 a case report of a patient with I244T\/ c.969\u20133C>G mutation. Perm J 24:19.136","journal-title":"Perm J"},{"key":"5613_CR48","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1016\/j.bbapap.2010.12.005","volume":"1814","author":"B Cellini","year":"2011","unstructured":"Cellini B, Montioli R, Voltattorni CB (2011) Human liver peroxisomal alanine:glyoxylate aminotransferase: characterisation of the two allelic forms and their pathogenic variants. Biochim Biophys Acta 1814:1577\u20131584","journal-title":"Biochim Biophys Acta"},{"key":"5613_CR49","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1016\/j.ekir.2020.04.004","volume":"5","author":"P Singh","year":"2020","unstructured":"Singh P, Chebib FT, Cogal AG, Gavrilov DK, Harris PC, Lieske JC (2020) Pyridoxine responsiveness in a type 1 primary hyperoxaluria patient with a rare (atypical) AGXT gene mutation. Kidney Int Rep 5:955\u2013958","journal-title":"Kidney Int Rep"},{"key":"5613_CR50","doi-asserted-by":"publisher","first-page":"5500","DOI":"10.1093\/hmg\/ddv276","volume":"24","author":"E Oppici","year":"2015","unstructured":"Oppici E, Fargue S, Reid ES, Mills PB, Clayton PT, Danpure CJ, Cellini B (2015) Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I. Hum Mol Genet 24:5500\u20135511","journal-title":"Hum Mol Genet"},{"key":"5613_CR51","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1056\/NEJM196802012780502","volume":"278","author":"HE Williams","year":"1968","unstructured":"Williams HE, Smith LH Jr (1968) L-glyceric aciduria. A new genetic variant of primary hyperoxaluria. N Engl J Med 278:233\u2013238","journal-title":"N Engl J Med"},{"key":"5613_CR52","doi-asserted-by":"publisher","first-page":"1389","DOI":"10.1016\/j.kint.2019.08.018","volume":"96","author":"SF Garrelfs","year":"2019","unstructured":"Garrelfs SF, Rumsby G, Peters-Sengers H, Erger F, Groothoff JW, Beck BB, Oosterveld MJS, Pelle A, Neuhaus T, Adams B, Cochat P, Salido E, Lipkin GW, Hoppe B, Hulton SA, OxalEurope Consortium (2019) Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int 96:1389\u20131399","journal-title":"Kidney Int"},{"key":"5613_CR53","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1016\/j.ajhg.2010.07.023","volume":"87","author":"R Belostotsky","year":"2010","unstructured":"Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y (2010) Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet 87:392\u2013399","journal-title":"Am J Hum Genet"},{"key":"5613_CR54","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1007\/s00109-012-0930-z","volume":"90","author":"R Belostotsky","year":"2012","unstructured":"Belostotsky R, Pitt JJ, Frishberg Y (2012) Primary hyperoxaluria type III\u2013a model for studying perturbations in glyoxylate metabolism. J Mol Med (Berl) 90:1497\u20131504","journal-title":"J Mol Med (Berl)"},{"key":"5613_CR55","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1016\/j.kint.2021.03.031","volume":"100","author":"C Martin-Higueras","year":"2021","unstructured":"Martin-Higueras C, Garrelfs SF, Groothoff JW, Jacob DE, Moochhala SH, Bacchetta J, Acquaviva C, Zaniew M, Sikora P, Beck BB, Hoppe B (2021) A report from the European Hyperoxaluria Consortium (OxalEurope) registry on a large cohort of patients with primary hyperoxaluria type 3. Kidney Int 100:621\u2013635","journal-title":"Kidney Int"},{"key":"5613_CR56","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1093\/ndt\/gfab027","volume":"37","author":"P Singh","year":"2021","unstructured":"Singh P, Viehman JK, Mehta RA, Cogal AG, Hasadsri L, Oglesbee D, Olson JB, Seide BM, Sas DJ, Harris PC, Lieske JC, Milliner DS (2021) Clinical characterization of primary hyperoxaluria type 3 in comparison to types 1 and 2: a retrospective cohort study. Nephrol Dial Transplant 37:869\u2013875","journal-title":"Nephrol Dial Transplant"},{"key":"5613_CR57","doi-asserted-by":"publisher","first-page":"3191","DOI":"10.1093\/ndt\/gfs039","volume":"27","author":"EL Williams","year":"2012","unstructured":"Williams EL, Bockenhauer D, Van\u2019t Hoff WG, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G (2012) The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant 27:3191\u20133195","journal-title":"Nephrol Dial Transplant"},{"key":"5613_CR58","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1038\/ejhg.2012.139","volume":"21","author":"BB Beck","year":"2013","unstructured":"Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nurnberg G, Yigit G, Salido EC, Hoppe B (2013) Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. Eur J Hum Genet 21:162\u2013172","journal-title":"Eur J Hum Genet"},{"key":"5613_CR59","doi-asserted-by":"publisher","first-page":"1785","DOI":"10.1007\/s00467-019-04279-7","volume":"34","author":"X Fang","year":"2019","unstructured":"Fang X, He L, Xu G, Lin H, Xu M, Geng H (2019) Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children. Pediatr Nephrol 34:1785\u20131790","journal-title":"Pediatr Nephrol"},{"key":"5613_CR60","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1159\/000086357","volume":"25","author":"Y Frishberg","year":"2005","unstructured":"Frishberg Y, Rinat C, Khatib I, Shalata A, Feinstein S, Becker-Cohen R, Weismann I, Wanders RJA, Rumsby G, Roels F, Mandel H (2005) Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. Am J Nephrol 25:269\u2013275","journal-title":"Am J Nephrol"},{"key":"5613_CR61","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/S0272-6386(97)90006-8","volume":"29","author":"B Hoppe","year":"1997","unstructured":"Hoppe B, Danpure CJ, Rumsby G, Fryer P, Jennings PR, Blau N, Schubiger G, Neuhaus T, Leumann E (1997) A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. Am J Kidney Dis 29:36\u201344","journal-title":"Am J Kidney Dis"},{"key":"5613_CR62","doi-asserted-by":"crossref","unstructured":"Corni\u00e8re N, Thomson RB, Thauvin S, Villoutreix BO, Karp S, Dynia DW, Burlein S, Brinkmann L, Badreddine A, Dechaume A, Derhourhi M, Durand E, Vaillant E, Froguel P, Chambrey R, Aronson PS, Bonnefond A, Eladari D (2022) Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis. J Med Genet jmedgenet-2021\u2013108256","DOI":"10.1136\/jmedgenet-2021-108256"},{"key":"5613_CR63","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1038\/ng1762","volume":"38","author":"Z Jiang","year":"2006","unstructured":"Jiang Z, Asplin JR, Evan AP, Rajendran VM, Velazquez H, Nottoli TP, Binder HJ, Aronson PS (2006) Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nat Genet 38:474\u2013478","journal-title":"Nat Genet"},{"key":"5613_CR64","doi-asserted-by":"publisher","first-page":"G719","DOI":"10.1152\/ajpgi.00481.2005","volume":"290","author":"RW Freel","year":"2006","unstructured":"Freel RW, Hatch M, Green M, Soleimani M (2006) Ileal oxalate absorption and urinary oxalate excretion are enhanced in Slc26a6 null mice. Am J Physiol Gastrointest Liver Physiol 290:G719-728","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"key":"5613_CR65","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1007\/s00467-021-05393-1","volume":"37","author":"MN M\u00e9aux","year":"2022","unstructured":"M\u00e9aux MN, Sellier-Leclerc AL, Acquaviva-Bourdain C, Harambat J, Allard L, Bacchetta J (2022) The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants. Pediatr Nephrol 37:907\u2013911","journal-title":"Pediatr Nephrol"},{"key":"5613_CR66","unstructured":"WHO (1998) Proposed international guidelines on ethical issues in medical genetics and genetic services."},{"key":"5613_CR67","doi-asserted-by":"publisher","first-page":"hoaa021","DOI":"10.1093\/hropen\/hoaa021","volume":"2020","author":"EPCS Committee","year":"2020","unstructured":"ESHRE PGT Consortium Steering Committee; Carvalho F, Coonen E, Goossens V, Kokkali G, Rubio C, Meijer-Hoogeveen M, Moutou C, Vermeulen N, De Rycke M (2020) ESHRE PGT Consortium good practice recommendations for the organisation of PGT. Hum Reprod Open 2020:hoaa021","journal-title":"Hum Reprod Open"},{"key":"5613_CR68","unstructured":"American College of Obstetricians and Gynecologists\u2019 Committee on Genetics in collaboration with Hoskovec J, Russo M (2019) Cell-free DNA to Screen for Single-Gene Disorders"},{"key":"5613_CR69","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1007\/s00467-002-0858-6","volume":"17","author":"SA Johnson","year":"2002","unstructured":"Johnson SA, Rumsby G, Cregeen D, Hulton SA (2002) Primary hyperoxaluria type 2 in children. Pediatr Nephrol 17:597\u2013601","journal-title":"Pediatr Nephrol"},{"key":"5613_CR70","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1016\/j.kint.2021.08.015","volume":"101","author":"B Hoppe","year":"2022","unstructured":"Hoppe B, Koch A, Cochat P, Garrelfs SF, Baum MA, Groothoff JW, Lipkin G, Coenen M, Schalk G, Amrite A, McDougall D, Barrios K, Langman CB (2022) Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria. Kidney Int 101:626\u2013634","journal-title":"Kidney Int"},{"key":"5613_CR71","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1515\/medgen-2021-2052","volume":"33","author":"C Netzer","year":"2021","unstructured":"Netzer C, Velmans C, Erger F, Schreml J (2021) Carrier testing for autosomal recessive disorders: a look at current practice in Germany. Medizinische Genetik 33:13\u201319. https:\/\/doi.org\/10.1515\/medgen-2021-2052","journal-title":"Med Gen"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-022-05613-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-022-05613-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-022-05613-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,23]],"date-time":"2023-11-23T00:54:17Z","timestamp":1700700857000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-022-05613-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,13]]},"references-count":71,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["5613"],"URL":"https:\/\/doi.org\/10.1007\/s00467-022-05613-2","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,13]]},"assertion":[{"value":"29 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 April 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 April 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"JB received consulting fees from Alnylam. CA received consulting fees from Alnylam. SFG and JWG have received an unconditional grant from both Alnylam Pharmaceuticals and Dicerna Pharmaceuticals, not related to this work. Alnylam and Dicerna have provided an unconditional grant to the OxalEurope Registry, not related to this work. All the other authors declared no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}