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Relevant bibliographies by topics / Primary Hyperoxaluria Type I (PHI)

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Academic literature on the topic 'Primary Hyperoxaluria Type I (PHI)'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

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Journal articles on the topic "Primary Hyperoxaluria Type I (PHI)"

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Ge, Yucheng, Yukun Liu, Ruichao Zhan, et al. "Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria." Human Mutation 2023 (September 14, 2023): 1–11. http://dx.doi.org/10.1155/2023/4875680.

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Primary hyperoxaluria (PH) is a rare monogenic disorder characterized by recurrent kidney stones, nephrocalcinosis, and renal impairment. To study the genotype and phenotype characteristics, we evaluated the clinical data of 42 Chinese pediatric PH patients who were diagnosed from May 2016 to April 2022. We found that patients with the PH3 type showed an earlier age of onset than those with the PH1 and PH2 types (1 versus 5 and 8 years, respectively, P < 0.001 ). Urine citrate was significantly lower in PH1 and PH2 patients than that in PH3 patients (91.81 and 85.56 versus 163.9 μg/mg, resp

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Knight, John, Ross P. Holmes, Scott D. Cramer, Tatsuya Takayama, and Eduardo Salido. "Hydroxyproline metabolism in mouse models of primary hyperoxaluria." American Journal of Physiology-Renal Physiology 302, no. 6 (2012): F688—F693. http://dx.doi.org/10.1152/ajprenal.00473.2011.

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Primary hyperoxaluria type 1 (PH1) and type 2 (PH2) are rare genetic diseases that result from deficiencies in glyoxylate metabolism. The increased oxalate synthesis that occurs can lead to kidney stone formation, deposition of calcium oxalate in the kidney and other tissues, and renal failure. Hydroxyproline (Hyp) catabolism, which occurs mainly in the liver and kidney, is a prominent source of glyoxylate and could account for a significant portion of the oxalate produced in PH. To determine the sensitivity of mouse models of PH1 and PH2 to Hyp-derived oxalate, animals were fed diets containi

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Hatch, Marguerite, Altin Gjymishka, Eduardo C. Salido, Milton J. Allison, and Robert W. Freel. "Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization withOxalobacter." American Journal of Physiology-Gastrointestinal and Liver Physiology 300, no. 3 (2011): G461—G469. http://dx.doi.org/10.1152/ajpgi.00434.2010.

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Oxalobacter colonization of rat intestine was previously shown to promote enteric oxalate secretion and elimination, leading to significant reductions in urinary oxalate excretion (Hatch et al. Kidney Int 69: 691–698, 2006). The main goal of the present study, using a mouse model of primary hyperoxaluria type 1 (PH1), was to test the hypothesis that colonization of the mouse gut by Oxalobacter formigenes could enhance enteric oxalate secretion and effectively reduce the hyperoxaluria associated with this genetic disease. Wild-type (WT) mice and mice deficient in liver alanine-glyoxylate aminot

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Danpure, Christopher J., and Gill Rumsby. "Molecular aetiology of primary hyperoxaluria and its implications for clinical management." Expert Reviews in Molecular Medicine 6, no. 1 (2004): 1–16. http://dx.doi.org/10.1017/s1462399404007203.

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The primary hyperoxalurias type 1 (PH1) and type 2 (PH2) are autosomal recessive calcium oxalate kidney stone diseases caused by deficiencies of the metabolic enzymes alanine:glyoxylate aminotransferase (AGT) and glyoxylate/hydroxypyruvate reductase (GR/HPR), respectively. Over 50 mutations have been identified in the AGXT gene (encoding AGT) in PH1, associated with a wide variety of effects on AGT, including loss of catalytic activity, aggregation, accelerated degradation, and peroxisome-to-mitochondrion mistargeting. Some of these mutations segregate and interact synergistically with a commo

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Brooks, Ellen R., Bernd Hoppe, Dawn S. Milliner, et al. "Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria." American Journal of Nephrology 43, no. 4 (2016): 293–303. http://dx.doi.org/10.1159/000445448.

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Background: Primary hyperoxaluria type 1 (PH1) and idiopathic hypercalciuria (IHC) are stone-forming diseases that may result in the formation of calcium (Ca) oxalate (Ox) stones, nephrocalcinosis, and progressive chronic kidney disease (CKD). Poorer clinical outcome in PH1 is segregated by the highest urine (Ur)-Ox (UrOx), while IHC outcomes are not predictable by UrCa. We hypothesized that differences would be found in selected Ur-protein (PRO) patterns in PH1 and IHC, compared to healthy intra-familial sibling controls (C) of PH1 patients. We also hypothesized that the PRO patterns associat

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Shah, Chintan G., Alpana J. Ohri, and Amish H. Udani. "Primary Hyperoxaluria Type 1: A great masquerader." Wadia Journal of Women and Child Health 1 (July 1, 2022): 13–17. http://dx.doi.org/10.25259/wjwch_2022_05.

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Primary hyperoxaluria (PH) Types I, II, and III is an autosomal recessive inherited disorder of defect in glyoxylate metabolism due to specific hepatic enzyme deficiencies causing renal damage due to deposition of oxalate crystals that induce renal epithelial cell injury, and inflammation resulting in reduced renal oxalate elimination leading to extra renal deposition of calcium oxalate crystals. PH is under diagnosed because of phenotypic heterogeneity masquerading as infantile nephrocalcinosis (NC) with or without renal failure or renal calculus disease in adults. We present three children w

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Danpure, Christopher J., and Patricia R. Jennings. "Further studies on the activity and subcellular distribution of alanine: Glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1." Clinical Science 75, no. 3 (1988): 315–22. http://dx.doi.org/10.1042/cs0750315.

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1. The activity of alanine:glyoxylate aminotransferase (AGT; EC 2.6.1.44) has been measured in the unfractionated livers of 20 patients with primary hyperoxaluria type 1 (PH1), three patients with other forms of primary hyperoxaluria and one PH1 heterozygote. The subcellular distribution of AGT activity was examined in four of the PH1 livers and in the liver of the PH1 heterozygote. 2. The mean AGT activity in the unfractionated PH1 livers was 12.6% of the mean control value. The activities of other aminotransferases and the peroxisomal marker enzymes were normal. When corrected for cross-over

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Garrelfs, Sander F., Dewi van Harskamp, Hessel Peters-Sengers, et al. "Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients." Journal of the American Society of Nephrology 32, no. 12 (2021): 3175–86. http://dx.doi.org/10.1681/asn.2021060729.

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BackgroundPrimary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism, characterized by increased endogenous oxalate production. The metabolic pathways underlying oxalate synthesis have not been fully elucidated, and upcoming therapies require more reliable outcome parameters than the currently used plasma oxalate levels and urinary oxalate excretion rates. We therefore developed a stable isotope infusion protocol to assess endogenous oxalate synthesis rate and the contribution of glycolate to both oxalate and glycine synthesis in vivo.MethodsEight healthy volunteers and eig

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Qingqi, Ren, Ju Weiqiang, Wang Dongping, Guo Zhiyong, Chen Maogen, and He Xiaoshun. "Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria." Journal of Nepal Medical Association 56, no. 205 (2017): 175–78. http://dx.doi.org/10.31729/jnma.2671.

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Primary hyperoxaluria type 1 is an autosomal recessive hereditary glyoxylate metabolism disorder characterized by excessive production of oxalate, caused by the deficiency of liver specific peroxisomal enzyme: alanineglyoxylate aminotransferase. For patients with end-stage renal disease, combined liver and kidney transplantation was needed. This report describes one patient, with a diagnosis of end-stage renal disease and primary hyperoxaluria 1 confirmed by PCR and direct sequencing with genomic DNA, received the simultaneous combined liver and kidney transplantation after seven months’ waiti

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Hasan, Asma, Sharon Maynard, Dominick Santoriello, and Henry Schairer. "Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report." Case Reports in Nephrology and Dialysis 8, no. 3 (2018): 223–29. http://dx.doi.org/10.1159/000493091.

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Background: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the AGXT gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme. It is characterized by accumulation of oxalate in the kidneys and other organs. Case Presentation: A Syrian woman with a history of nephrolithiasis and heterozygosity for factor V Leiden and prothrombin gene mutations presented with postpartum renal failure. She required initiation of renal replacement therapy at 14 weeks postpartum. Kidney biopsy showed severe acute and chronic crystalline depositi

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Dissertations / Theses on the topic "Primary Hyperoxaluria Type I (PHI)"

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Von, Schnakenburg Claus Christian. "Molecular analysis of the AGXT gene and linkage studies in primary hyperoxaluria type 1." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.299831.

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DINDO, MIRCO. "Molecular analysis of the dimerization and aggregation processes of human alanine:glyoxylate aminotransferase and effect of mutations leading to Primary Hyperoxaluria Type I." Doctoral thesis, 2017. http://hdl.handle.net/11562/960999.

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Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal recessive disorder characterized by the deposition of insoluble calcium oxalate crystals at first in the kidneys and urinary tract and then in the whole body. PH1 is caused by the deficiency of human liver peroxisomal alanine:glyoxylate aminotransferase (AGT). AGT is a pyridoxal 5'-phosphate (PLP)-dependent enzyme, which converts glyoxylate to glycine, thus preventing glyoxylate oxidation to oxalate and calcium oxalate formation. Only two curative therapeutic approaches are currently available for PH1: the administration of pyridoxine (PN)

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Domingues, Mara Sofia de Almeida. "3D hiPSC to hepatocyte differentiation in bioreactor for Primary Hyperoxaluria type I disease model." Master's thesis, 2018. http://hdl.handle.net/10362/52956.

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LORENZETTO, Antonio. "SHEDDING LIGHT ON THE MOLECULAR DEFECT OF TWOALANINE:GLYOXYLATE AMINOTRANSFERASE PATHOGENIC VARIANTS:A BIOCHEMICAL APPROACH." Doctoral thesis, 2011. http://hdl.handle.net/11562/351830.

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L’iperossaluria primaria di tipo 1 (PH1) è una malattia autosomica recessiva rara caratterizzata dal deposito di cristalli insolubili di ossalato di calcio prima nei reni e nel tratto urinario ed in seguito, in assenza di un appropriato trattamento, in tutto il resto del corpo. PH1 è causata da un deficit funzionale di alanina:gliossilato aminotransferasi umana (AGT), un enzima piridossal 5’-fosfato (PLP) dipendente che converte il gliossilato in glicina, prevenendo in tal modo la ossidazione del gliossilato ad ossalato e quindi la formazione di cristalli insolubili di ossalato di calcio. L’AG

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Roncador, Alessandro. "THE DEFICIT OF ALANINE:GLYOXYLATE AMINOTRANSFERASE LEADS TO PRIMARY HYPEROXALURIA TYPE I: A BIOCHEMICAL STUDY TO UNDERSTAND THE ROLE OF INTERALLELIC COMPLEMENTATION IN COMPOUND HETEROZYGOUS PATIENTS AND TO PROJECT THE DEVELOPMENT OF AN ENZYME ADMINISTRATION THERAPY." Doctoral thesis, 2014. http://hdl.handle.net/11562/723363.

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Iperossaluria Primaria tipo I ( PH1 ) è una rara malattia autosomica recessiva caratterizzata da un elevato livello di ossalato nelle urine , che provoca la formazione di cristalli insolubili di ossalato di calcio dapprima nei reni e delle vie urinarie e , in assenza di un adeguato trattamento , in tutto il corpo . PH1 è causata da un deficit dell'enzima epatico Alanina: Gliossilato aminotransferasi ( AGT ). AGT è un enzima piridossal 5' - fosfato perossisomi ( PLP )-dipendente che converte il gliossilato in glicina, impedendo così l'ossidazione gliossilato di ossalato e la successiva formazio

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Book chapters on the topic "Primary Hyperoxaluria Type I (PHI)"

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Chen, Charles B., Kadakkal Radhakrishnan, and Koji Hashimoto. "Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1." In Pediatric Solid Organ Transplantation. Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-19-6909-6_32.

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Danpure, C. J., P. J. Cooper, P. R. Jennings, P. J. Wise, R. J. Penketh, and C. H. Rodeck. "Enzymatic Prenatal Diagnosis of Primary Hyperoxaluria Type 1: Potential and Limitations." In Studies in Inherited Metabolic Disease. Springer Netherlands, 1989. http://dx.doi.org/10.1007/978-94-009-1069-0_29.

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Danpure, C. J., and P. R. Jennings. "Deficiency of Peroxisomal Alanine: Glyoxylate Aminotransferase in Primary Hyperoxaluria Type 1." In Proceedings in Life Sciences. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71325-5_40.

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Danpure, C. J., and P. R. Jennings. "Enzymatic Heterogeneity in Primary Hyperoxaluria Type 1 (Hepatic Peroxisomal Alanine: Glyoxylate Aminotransferase Deficiency)." In Studies in Inherited Metabolic Disease. Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-1259-5_32.

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Déglise-Favre, A., G. Manganella, D. Samuel, and H. Bismuth. "Combined Hepatic and Renal Transplantation in Primary Hyperoxaluria Type I: Report of Four Cases." In Organ Shortage: The Solutions. Springer Netherlands, 1995. http://dx.doi.org/10.1007/978-94-011-0201-8_66.

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Raghavan, K. G., and K. V. Inamdar. "Role of Hydroxypyruvate in the Manifestation of Primary Hyperoxaluria L-Glyceric Aciduria Type-II." In Urolithiasis 2. Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2556-1_2.

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Marangella, M., M. Petrarulo, C. Vitale, D. Cosseddu, and F. Linari. "Glycolate and Oxalate Plasma Levels and Renal Handling in Patients With Type 1 Primary Hyperoxaluria." In Urolithiasis 2. Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2556-1_16.

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Ishikawa, K., T. Suzuki, T. Funai, K. Nishiyama, C. Uchida, and A. Ichiyama. "A liver enzyme, serine:pyruvate/alanine:glyoxylate aminotransferase and its mutant in a primary hyperoxaluria type 1 case." In Biochemistry of Vitamin B6 and PQQ. Birkhäuser Basel, 1994. http://dx.doi.org/10.1007/978-3-0348-7393-2_53.

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Suzuki, Toshiaki, Kozo Nishiyama, Tsuneyoshi Funai, Keiji Tanaka, Akira Ichihara, and Arata Ichiyama. "Energy-Dependent Degration of a Mutant Serine:Pyruvate/Alanin: Glyoxylate Aminotransferase in a Primary Hyperoxaluria Type 1 C." In Intracellular Protein Catabolism. Springer US, 1996. http://dx.doi.org/10.1007/978-1-4613-0335-0_16.

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Thompson, G. N., P. Purkiss, and C. J. Danpure. "The Subcellular Metabolism of Glyoxylate in Primary Hyperoxaluria Type 1: The Relationship Between Glycine Production and Oxalate Overproduction." In Studies in Inherited Metabolic Disease. Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-1259-5_34.

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Conference papers on the topic "Primary Hyperoxaluria Type I (PHI)"

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Mbeledogu, Chukwudumebi, Sally-Anne Hulton, Ashish Chikermane, et al. "L6 Morbidity associated with primary hyperoxaluria type 1 (PH1) following liver transplantation: an aid for counselling of families." In Abstracts of the BSPGHAN Annual Meeting, 25–27 April 2022. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/flgastro-2022-bspghan.69.

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Shouli, Roba Al, and Mohamed Elfakky. "6835 Lumasiran efficacy and safety in patients with primary hyperoxaluria type 1: a systematic review." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Birmingham, 25 March 2024 – 27 March 2024. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2024. http://dx.doi.org/10.1136/archdischild-2024-rcpch.101.

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Singh, M., D. Voleti, R. Reddy, and A. S. Aldahmani. "Carbonate Rock Typing: Challenges, Mitigations and Pragmatic Workflows." In ADIPEC. SPE, 2023. http://dx.doi.org/10.2118/216057-ms.

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Abstract Carbonate rock typing is a fundamental to capture the variation of several static, dynamic petrophysical properties driven by depositional and diagenetic overprint, thus, is an important input for controlling the reservoir properties. Since rock undergoes varying degree of diagenesis, therefore, establishing a simple relationship of geology with petrophysics is difficult. This paper highlights challenges, mitigations, quality checks, while defining carbonate rock types from core to log domain, preserving desired heterogeneity through robust schemes and workflows. The fundamental to ro

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