Log in

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

To see the other types of publications on this topic, follow the link: Primary Hyperoxaluria Type I (PHI).

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

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Primary Hyperoxaluria Type I (PHI).'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

2

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

3

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

4

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

5

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

6

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

7

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

8

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

9

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

10

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

11

Letko, Anna, Reinie Dijkman, Ben Strugnell, et al. "Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep." Genes 11, no. 10 (2020): 1147. http://dx.doi.org/10.3390/genes11101147.

Full text

Abstract:

Severe oxalate nephropathy has been previously reported in sheep and is mostly associated with excessive oxalate in the diet. However, a rare native Dutch breed (Zwartbles) seems to be predisposed to an inherited juvenile form of primary hyperoxaluria and no causative genetic variant has been described so far. This study aims to characterize the phenotype and genetic etiology of the inherited metabolic disease observed in several purebred Zwartbles sheep. Affected animals present with a wide range of clinical signs including condition loss, inappetence, malaise, and, occasionally, respiratory

APA, Harvard, Vancouver, ISO, and other styles

12

Sikora, Przemysław. "Primary hyperoxaluria type 1– clinical characteristics and new therapeutic options." Lekarz Wojskowy 101, no. 2 (2023): 87–90. http://dx.doi.org/10.53301/lw/161924.

Full text

Abstract:

Pierwotna hiperoksaluria typu 1 (PH1) to genetycznie uwarunkowana, ultrarzadka choroba metaboliczna o dziedziczeniu autosomalnym recesywnym. Jej powodem są mutacje genu AGXT kodującego specyficzny dla hepatocytów peroksysomalny enzym – aminotransferazę alaninowo-glioksalanową (AGT). Skutkiem jest zaburzenie metabolizmu glioksalanu prowadzące do wątrobowej nadprodukcji szczawianu i jego nadmiernego wydalania z moczem (hiperoksalurii). W większości przypadków choroba ujawnia się w okresie dzieciństwa jako nawracająca kamica moczowa szczawianowo-wapniowa (CaOx) i/lub nefrokalcynoza. W następstwie

APA, Harvard, Vancouver, ISO, and other styles

13

Al Riyami, Mohamed S., Badria Al Ghaithi, Nadia Al Hashmi, and Naifain Al Kalbani. "Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome." International Journal of Nephrology 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/634175.

Full text

Abstract:

Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of theAGXTgene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical characteristics, type ofAGXTmutation, and outcome in children diagnosed with PH1 at a tertiary referral center in Oman.Method. Retrospective review of children diagnosed with PH1 at a tertiary hospital in

APA, Harvard, Vancouver, ISO, and other styles

14

Lin, Jin-ai, Xin Liao, Wenlin Wu, Lixia Xiao, Longshan Liu, and Jiang Qiu. "Clinical analysis of 13 children with primary hyperoxaluria type 1." Urolithiasis 49, no. 5 (2021): 425–31. http://dx.doi.org/10.1007/s00240-021-01249-3.

Full text

Abstract:

AbstractA retrospective statistical analysis of primary hyperoxaluria type 1 (PH1) in children from June 2016 to May 2019 was carried out to discover its clinical and molecular biological characteristics. Patients were divided into two groups (infant and noninfant) according to clinic type. There were 13 pediatric patients (male:female = 6:7) with PH1 in the cohort from 11 families (four of which were biological siblings from two families), whose median age of symptom onset was 12 months and median confirmed diagnosis age was 14 months. Infant type (6 patients) was the most common type. The in

APA, Harvard, Vancouver, ISO, and other styles

15

Morgan, S. H., C. J. Danpure, M. R. Bending, and A. J. Eisinger. "Exclusion of Primary Hyperoxaluria Type I (PHI) in End-Stage Renal Failure by Enzymatic Analysis of a Percutaneous Hepatic Biopsy." Nephron 55, no. 3 (1990): 336–37. http://dx.doi.org/10.1159/000185987.

Full text

APA, Harvard, Vancouver, ISO, and other styles

16

Hameed, Mohammed, Kashif Eqbal, Beena Nair, Alexander Woywodt, and Aimun Ahmed. "Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow!" Nephrology @ Point of Care 1, no. 1 (2015): napoc.2015.1467. http://dx.doi.org/10.5301/napoc.2015.14679.

Full text

Abstract:

Primary hyperoxaluria type 1 (PH1) is a rare, inherited, autosomal recessive, metabolic disorder caused by a deficiency of peroxisomal alanine-glyoxylate aminotransferase (AGT). We describe here a case of a 57-year-old man with End Stage Renal Disease, where the late age of presentation of PH T1 due to marked heterogeneity of disease expression caused a delay in diagnosis, and we discuss the causes of the poor outcome typical of this condition

APA, Harvard, Vancouver, ISO, and other styles

17

Wong, Ping-Nam, Eric L. K. Law, Gensy M. W. Tong, Siu-Ka Mak, Kin-Yee Lo, and Andrew K. M. Wong. "Diagnosis of Primary Hyperoxaluria Type 1 by Determination of Peritoneal Dialysate Glycolic Acid Using Standard Organic-Acids Analysis Method." Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 23, no. 2_suppl (2003): 210–13. http://dx.doi.org/10.1177/089686080302302s44.

Full text

Abstract:

Objective Hyperglycolic hyperoxaluria is an important biochemical diagnostic hallmark for primary hyperoxaluria type 1 (PH1). Biochemical work-up on urinary specimens becomes impossible after the development end-stage renal failure and anuria. We studied the diagnostic value of determining glycolic acid content in peritoneal dialysate effluent in PH1. Patients and Methods We performed a comparative study on an anuric continuous ambulatory peritoneal dialysis (CAPD) patient whose PH1 was confirmed by genetic study and on 5 anuric CAPD controls. Specimens were taken from each bag of peritoneal d

APA, Harvard, Vancouver, ISO, and other styles

18

AMOROSO, ANTONIO, DOROTI PIRULLI, FIORELLA FLORIAN, et al. "AGXTGene Mutations and Their Influence on Clinical Heterogeneity of Type 1 Primary Hyperoxaluria." Journal of the American Society of Nephrology 12, no. 10 (2001): 2072–79. http://dx.doi.org/10.1681/asn.v12102072.

Full text

Abstract:

Abstract. Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder that is caused by a deficiency of alanine: glyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinical, biochemical, and enzymological data to evaluate genotype-phenotype correlation. Twenty-three unrelated, Italian PH1 patients were studied, 20 of which were grouped according to severe form of PH1 (group A), adult form (group B), and mild to moderate decrease in renal function (group C). All 23 patients were analyzed by using the singl

APA, Harvard, Vancouver, ISO, and other styles

19

Vanmassenhove, Jill, Raymond Vanholder, Ramses Forsyth, and Annemieke Dhondt. "Encapsulating Peritoneal Sclerosis in a Patient with Primary Hyperoxaluria Type 1: A Case Report." Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 30, no. 1 (2010): 108–11. http://dx.doi.org/10.3747/pdi.2008.00269.

Full text

Abstract:

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder caused by a defect in glyoxylate metabolism attributable to low or absent activity of the liver-specific peroxisomal enzyme alanine/glyoxylate aminotransferase. This defect leads to enhanced conversion of glyoxylate to poorly soluble oxalate, which is then excreted into the urine. This process may lead to deposition of calcium oxalate crystals in many tissues as well as in the kidneys, resulting in nephrolithiasis, nephrocalcinosis, and/or renal failure.We present a 39-year-old patient with end-stage renal failure due to PH1, who

APA, Harvard, Vancouver, ISO, and other styles

20

Wang, Xinsheng, Xiangzhong Zhao, Xiaoling Wang, et al. "Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3." American Journal of Nephrology 42, no. 1 (2015): 78–84. http://dx.doi.org/10.1159/000439232.

Full text

Abstract:

Background: Twenty-six HOGA1 mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never been described in Asians. Methods: A Chinese child with early-onset nephrolithiasis was suspected of having PH. We searched for AGXT, GRHPR and HOGA1 gene mutations in this patient and his parents. All coding regions, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. Results: Two heterozygous mutations not previously described in the literature about

APA, Harvard, Vancouver, ISO, and other styles

21

Meriam, Hajji, Asma Bettaieb, Hayet Kaaroud, et al. "Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center." International Journal of Nephrology 2023 (July 19, 2023): 1–5. http://dx.doi.org/10.1155/2023/2874414.

Full text

Abstract:

Introduction. Primary hyperoxaluria type 1 (PH1) is a rare and inherited condition of urolithiasis. The aim of our study was to analyze clinical, paraclinical, and evolutionary aspects of PH1 in adult patients in our Nephrology department. Methods. We conducted a retrospective single-center study between 1990 and 2021. We collected patients followed for PH1 confirmed by genetic study and/or histopathological features of renal biopsy and morphoconstitutional analysis of the calculi. Results. There were 25 patients with a gender ratio of 1.78. The median age at onset of symptoms was 18 years. A

APA, Harvard, Vancouver, ISO, and other styles

22

Hou, Shurong, Franck Madoux, Louis Scampavia, Jo Ann Janovick, P. Michael Conn, and Timothy P. Spicer. "Drug Library Screening for the Identification of Ionophores That Correct the Mistrafficking Disorder Associated with Oxalosis Kidney Disease." SLAS DISCOVERY: Advancing the Science of Drug Discovery 22, no. 7 (2017): 887–96. http://dx.doi.org/10.1177/2472555217689992.

Full text

Abstract:

Primary hyperoxaluria is the underlying cause of oxalosis and is a life-threatening autosomal recessive disease, for which treatment may require dialysis or dual liver-kidney transplantation. The most common primary hyperoxaluria type 1 (PH1) is caused by genetic mutations of a liver-specific enzyme alanine:glyoxylate aminotransferase (AGT), which results in the misrouting of AGT from the peroxisomes to the mitochondria. Pharmacoperones are small molecules with the ability to modify misfolded proteins and route them correctly within the cells, which may present an effective strategy to treat A

APA, Harvard, Vancouver, ISO, and other styles

23

Worcester, Elaine M., Andrew P. Evan, Fredric L. Coe, et al. "A test of the hypothesis that oxalate secretion produces proximal tubule crystallization in primary hyperoxaluria type I." American Journal of Physiology-Renal Physiology 305, no. 11 (2013): F1574—F1584. http://dx.doi.org/10.1152/ajprenal.00382.2013.

Full text

Abstract:

The sequence of events by which primary hyperoxaluria type 1 (PH1) causes renal failure is unclear. We hypothesize that proximal tubule (PT) is vulnerable because oxalate secretion raises calcium oxalate (CaOx) supersaturation (SS) there, leading to crystal formation and cellular injury. We studied cortical and papillary biopsies from two PH1 patients with preserved renal function, and seven native kidneys removed from four patients at the time of transplant, after short-term ( 2 ) or longer term ( 2 ) dialysis. In these patients, and another five PH1 patients without renal failure, we calcula

APA, Harvard, Vancouver, ISO, and other styles

24

Cooper, P. J., C. J. Danpure, P. J. Wise, and K. M. Guttridge. "Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1." Journal of Histochemistry & Cytochemistry 36, no. 10 (1988): 1285–94. http://dx.doi.org/10.1177/36.10.3418107.

Full text

Abstract:

Primary hyperoxaluria type 1 (PH1) is an inherited disorder of glyoxylate metabolism caused by a deficiency of the hepatic peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT; EC 2.6.1.44) [FEBS Lett (1986) 201:20]. The aim of the present study was to investigate the intracellular distribution of immunoreactive AGT protein, using protein A-gold immunocytochemistry, in normal human liver and in livers of PH1 patients with (CRM+) or without (CRM-) immunologically crossreacting enzyme protein. In all CRM+ individuals, which included three controls, a PH1 heterozygote and a PH1 homozygote

APA, Harvard, Vancouver, ISO, and other styles

25

Lorenz, Elizabeth C., John C. Lieske, Barbara M. Seide, Julie B. Olson, Ramila A. Mehta, and Dawn S. Milliner. "Recovery from Dialysis in Responsive Primary Hyperoxaluria Type 1 (PH1) Patients After Initiation of Pyridoxine." Journal of the American Society of Nephrology 31, no. 10S (2020): 518. http://dx.doi.org/10.1681/asn.20203110s1518b.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

Dindo, Mirco, Silvia Grottelli, Giannamaria Annunziato, et al. "Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1." Biochemical Journal 476, no. 24 (2019): 3751–68. http://dx.doi.org/10.1042/bcj20190507.

Full text

Abstract:

Peroxisomal alanine:glyoxylate aminotransferase (AGT) is responsible for glyoxylate detoxification in human liver and utilizes pyridoxal 5′-phosphate (PLP) as coenzyme. The deficit of AGT leads to Primary Hyperoxaluria Type I (PH1), a rare disease characterized by calcium oxalate stones deposition in the urinary tract as a consequence of glyoxylate accumulation. Most missense mutations cause AGT misfolding, as in the case of the G41R, which induces aggregation and proteolytic degradation. We have investigated the interaction of wild-type AGT and the pathogenic G41R variant with d-cycloserine (

APA, Harvard, Vancouver, ISO, and other styles

27

Poyah, Penelope, Joel Bergman, Laurette Geldenhuys, et al. "Primary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report." Canadian Journal of Kidney Health and Disease 8 (January 2021): 205435812110589. http://dx.doi.org/10.1177/20543581211058931.

Full text

Abstract:

Rationale: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder more commonly diagnosed in children or adolescents. Owing to its rarity and heterogeneous phenotype, it is often underrecognized, resulting in delayed diagnosis, including diagnosis after end-stage kidney disease (ESKD) has occurred or recurrence after kidney-only transplantation. Case Presentation: A 40-year-old Caucasian Canadian woman with a history of recurrent nephrolithiasis since age 19 presented with ESKD and cutaneous symptoms. She had no known prior kidney disease and no family history of kidney disease or n

APA, Harvard, Vancouver, ISO, and other styles

28

Danpure, C. J., P. J. Cooper, P. J. Wise, and P. R. Jennings. "An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria." Journal of Cell Biology 108, no. 4 (1989): 1345–52. http://dx.doi.org/10.1083/jcb.108.4.1345.

Full text

Abstract:

Most patients with the autosomal recessive disease primary hyperoxaluria type 1 (PH1) have a complete deficiency of alanine/glyoxylate aminotransferase (AGT) enzyme activity and immunoreactive protein. However a few possess significant residual activity and protein. In normal human liver, AGT is entirely peroxisomal, whereas it is entirely mitochondrial in carnivores, and both peroxisomal and mitochondrial in rodents. Using the techniques of isopycnic sucrose and Percoll density gradient centrifugation and quantitative protein A-gold immunoelectron microscopy, we have found that in two PH1 pat

APA, Harvard, Vancouver, ISO, and other styles

29

Wang, Wenying, Yi Liu, Lulu Kang, et al. "Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population." Kidney and Blood Pressure Research 44, no. 4 (2019): 743–53. http://dx.doi.org/10.1159/000501458.

Full text

Abstract:

Background: Primary hyperoxaluria type 3 (PH3) is a rare autosomal recessive disorder that affects glyoxylate metabolism. PH3 is caused by defects in 4-hydroxy-2-oxoglutarate aldolase, which is encoded by the HOGA1 gene. However, only 3 cases of PH3 have been described in Asians until today. This study aimed to determine the clinical and mutation spectra of patients from mainland China with PH3. Methods: We applied targeted next-generation sequencing to four non-consanguineous, unrelated Chinese families with PH3 to identify the genes hosting disease-causing mutations. This approach was confir

APA, Harvard, Vancouver, ISO, and other styles

30

Groothoff, Jaap, Anne-Laure A. Sellier-Leclerc, Lisa Deesker, et al. "Long-Term Nedosiran Safety and Efficacy in Primary Hyperoxaluria Type 1 (PH1): Interim Analysis of PHYOX3." Journal of the American Society of Nephrology 34, no. 11S (2023): B8—B9. https://doi.org/10.1681/asn.20233411b8c.

Full text

APA, Harvard, Vancouver, ISO, and other styles

31

Purdue, P. E., Y. Takada, and C. J. Danpure. "Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1." Journal of Cell Biology 111, no. 6 (1990): 2341–51. http://dx.doi.org/10.1083/jcb.111.6.2341.

Full text

Abstract:

We have previously shown that in some patients with primary hyperoxaluria type 1 (PH1), disease is associated with mistargeting of the normally peroxisomal enzyme alanine/glyoxylate aminotransferase (AGT) to mitochondria (Danpure, C.J., P.J. Cooper, P.J. Wise, and P.R. Jennings. J. Cell Biol. 108:1345-1352). We have synthesized, amplified, cloned, and sequenced AGT cDNA from a PH1 patient with mitochondrial AGT (mAGT). This identified three point mutations that cause amino acid substitutions in the predicted AGT protein sequence. Using PCR and allele-specific oligonucleotide hybridization, a r

APA, Harvard, Vancouver, ISO, and other styles

32

Huang, Amadeus, Julia Burke, Richard D. Bunker та ін. "Regulation of human 4-hydroxy-2-oxoglutarate aldolase by pyruvate and α-ketoglutarate: implications for primary hyperoxaluria type-3". Biochemical Journal 476, № 21 (2019): 3369–83. http://dx.doi.org/10.1042/bcj20190548.

Full text

Abstract:

4-hydroxy-2-oxoglutarate aldolase (HOGA1) is a mitochondrial enzyme that plays a gatekeeper role in hydroxyproline metabolism. Its loss of function in humans causes primary hyperoxaluria type 3 (PH3), a rare condition characterised by excessive production of oxalate. In this study, we investigated the significance of the associated oxaloacetate decarboxylase activity which is also catalysed by HOGA1. Kinetic studies using the recombinant human enzyme (hHOGA1) and active site mutants showed both these dual activities utilise the same catalytic machinery with micromolar substrate affinities sugg

APA, Harvard, Vancouver, ISO, and other styles

33

Donini, Stefano, Manuela Ferrari, Chiara Fedeli, et al. "Recombinant production of eight human cytosolic aminotransferases and assessment of their potential involvement in glyoxylate metabolism." Biochemical Journal 422, no. 2 (2009): 265–72. http://dx.doi.org/10.1042/bj20090748.

Full text

Abstract:

PH1 (primary hyperoxaluria type 1) is a severe inborn disorder of glyoxylate metabolism caused by a functional deficiency of the peroxisomal enzyme AGXT (alanine-glyoxylate aminotransferase), which converts glyoxylate into glycine using L-alanine as the amino-group donor. Even though pre-genomic studies indicate that other human transaminases can convert glyoxylate into glycine, in PH1 patients these enzymes are apparently unable to compensate for the lack of AGXT, perhaps due to their limited levels of expression, their localization in an inappropriate cell compartment or the scarcity of the

APA, Harvard, Vancouver, ISO, and other styles

34

Williams, Emma, and Gill Rumsby. "Selected Exonic Sequencing of the AGXT Gene Provides a Genetic Diagnosis in 50% of Patients with Primary Hyperoxaluria Type 1." Clinical Chemistry 53, no. 7 (2007): 1216–21. http://dx.doi.org/10.1373/clinchem.2006.084434.

Full text

Abstract:

Abstract Background: Definitive diagnosis of primary hyperoxaluria type 1 (PH1) requires analysis of alanine:glyoxylate aminotransferase (AGT) activity in the liver. We have previously shown that targeted screening for the 3 most common mutations in the AGXT gene (c.33_34insC, c.508G&gt;A, and c.731T&gt;C) can provide a molecular diagnosis in 34.5% of PH1 patients, eliminating the need for a liver biopsy. Having reviewed the distribution of all AGXT mutations, we have evaluated a diagnostic strategy that uses selected exon sequencing for the molecular diagnosis of PH1. Methods: We sequ

APA, Harvard, Vancouver, ISO, and other styles

35

Nishiyama, K., T. Funai, S. Yokota, and A. Ichiyama. "ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case." Journal of Cell Biology 123, no. 5 (1993): 1237–48. http://dx.doi.org/10.1083/jcb.123.5.1237.

Full text

Abstract:

Primary hyperoxaluria type 1 (PH 1), an inborn error of glyoxylate metabolism characterized by excessive synthesis of oxalate and glycolate, is caused by a defect in serine:pyruvate/alanine:glyoxylate aminotransferase (SPT/AGT). This enzyme is peroxisomal in human liver. Recently, we cloned SPT/AGT-cDNA from a PH 1 case, and demonstrated a point mutation of T to C in the coding region of the SPT/AGT gene encoding a Ser to Pro substitution at residue 205 (Nishiyama, K., T. Funai, R. Katafuchi, F. Hattori, K. Onoyama, and A. Ichiyama. 1991. Biochem. Biophys. Res. Commun. 176:1093-1099). In the l

APA, Harvard, Vancouver, ISO, and other styles

36

Webster, Kylie E., Patrick M. Ferree, Ross P. Holmes, and Scott D. Cramer. "Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)." Human Genetics 107, no. 2 (2000): 176–85. http://dx.doi.org/10.1007/s004390000351.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Adiga, Usha, Banubadi Anil Kishore, P. Supriya, Alfred J. Augustine, and Sampara Vasishta. "Statistical Analysis of Microarray Data to Identify Key Gene Expression Patterns in Primary Hyperoxaluria." International Journal of Statistics in Medical Research 13 (December 27, 2024): 436–49. https://doi.org/10.6000/1929-6029.2024.13.38.

Full text

Abstract:

This study aims to utilize microarray data deposited by Romero et al. and conduct bioinformatic analysis for identifying differentially expressed genes (DEGs) associated with a novel method involving gene correction at the Alanine–Glyoxylate Aminotransferase (AGXT) locus and direct conversion of fibroblasts from primary hyperoxaluria type 1 (PH1) patients into healthy induced hepatocytes (iHeps) using Clustered Regularly Interspaced Short Palindromic Repeats - CRISPR-associated protein 9 (CRISPR-Cas9) technology. Additionally, the study aims to elucidate the molecular mechanisms underlying hyp

APA, Harvard, Vancouver, ISO, and other styles

38

Leiper, J. M., P. B. Oatey, and C. J. Danpure. "Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1." Journal of Cell Biology 135, no. 4 (1996): 939–51. http://dx.doi.org/10.1083/jcb.135.4.939.

Full text

Abstract:

Peroxisome-to-mitochondrion mistargeting of the homodimeric enzyme alanine:glyoxylate aminotransferase 1 (AGT) in the autosomal recessive disease primary hyperoxaluria type 1 (PH1) is associated with the combined presence of a normally occurring Pro(11)Leu polymorphism and a PH1-specific Gly170Arg mutation. The former leads to the formation of a novel NH2-terminal mitochondrial targeting sequence (MTS), which although sufficient to direct the import of in vitro-translated AGT into isolated mitochondria, requires the additional presence of the Gly170Arg mutation to function efficiently in whole

APA, Harvard, Vancouver, ISO, and other styles

39

Wang, Xiangling, David S. Danese, Thomas A. Brown, et al. "Disease Manifestations, Treatment, and Healthcare Resource Use (HRU) in Primary Hyperoxaluria Type 1 (PH1): An International Online Chart Review Study." Journal of the American Society of Nephrology 31, no. 10S (2020): 514. http://dx.doi.org/10.1681/asn.20203110s1514b.

Full text

APA, Harvard, Vancouver, ISO, and other styles

40

Giafi, C. F., and G. Rumsby. "Kinetic Analysis and Tissue Distribution of Human D-Glycerate Dehydrogenase/Glyoxylate Reductase and its Relevance to the Diagnosis of Primary Hyperoxaluria Type 2." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 35, no. 1 (1998): 104–9. http://dx.doi.org/10.1177/000456329803500114.

Full text

Abstract:

The enzyme D-glycerate dehydrogenase (D-GDH; EC 1.1.1.29), which is also believed to have glyoxylate reductase (GR; EC 1.1.1.26/79) activity, plays a role in serine catabolism and glyoxylate metabolism and deficiency of this enzyme is believed to be the cause of primary hyperoxaluria type 2 (PH2). The pH optima and kinetic parameters of D-GDH and GR in human liver have been determined and assays developed for their measurement. Maximal activities were observed at pH 6.0, 8.0 and 7.6 for the D-GDH forward, D-GDH reverse and GR reactions, respectively. The apparent Km values for the substrates i

APA, Harvard, Vancouver, ISO, and other styles

41

Ahmad, Milya Urfa, and Syarifah Dewi. "Development of RNA interference-based therapy for rare genetic diseases." Acta Biochimica Indonesiana 7, no. 1 (2024): 171. http://dx.doi.org/10.32889/actabioina.171.

Full text

Abstract:

In December 2022, the Indonesian Ministry of Health projected that rare diseases might affect 8–10% of the population, equating to approximately 27 million people. These diseases, often congenital, are linked to genetic inheritance or mutations, leading to structural or functional defects. Despite advancements in diagnostic and treatment methods, many rare diseases remain challenging for healthcare practitioners. RNA interference (RNAi) presents a promising therapeutic approach by enabling the selective inhibition of genes responsible for genetic disorders. RNAi employs small RNA molecules, su

APA, Harvard, Vancouver, ISO, and other styles

42

Birtel, Johannes, Roselie M. Diederen, Philipp Herrmann, et al. "The retinal phenotype in primary hyperoxaluria type 2 and 3." Pediatric Nephrology, October 19, 2022. http://dx.doi.org/10.1007/s00467-022-05765-1.

Full text

Abstract:

Abstract Background The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, primarily the kidneys, bones, heart, and eyes. Vision loss induced by severe retinal deposits is commonly seen in infantile PH1; less frequently and milder retinal alterations are found in non-infantile PH1. Retinal disease has not systematically been investigated in patients with PH2 and PH3. Methods A comprehensive ophthalmic examination wa

APA, Harvard, Vancouver, ISO, and other styles

43

Wanders, Ronald J. A., Jaap W. Groothoff, Lisa J. Deesker, Eduardo Salido, and Sander F. Garrelfs. "Human glyoxylate metabolism revisited: New insights pointing to multi‐organ involvement with implications for siRNA‐based therapies in primary hyperoxaluria." Journal of Inherited Metabolic Disease, November 24, 2024. http://dx.doi.org/10.1002/jimd.12817.

Full text

Abstract:

AbstractGlyoxylate is a toxic metabolite because of its rapid conversion into oxalate, as catalyzed by the ubiquitous enzyme lactate dehydrogenase. This requires the presence of efficient glyoxylate detoxification systems in multiple subcellular compartments, as glyoxylate is produced in peroxisomes, mitochondria, and the cytosol. Alanine glyoxylate aminotransferase (AGT) and glyoxylate reductase/hydroxypyruvate reductase (GRHPR) are the key enzymes involved in glyoxylate detoxification. Bi‐allelic mutations in the genes coding for these enzymes cause primary hyperoxaluria type 1 (PH1) and 2 (

APA, Harvard, Vancouver, ISO, and other styles

44

Singh, Prince, Jason K. Viehman, Ramila A. Mehta, et al. "Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2." Nephrology Dialysis Transplantation, February 5, 2021. http://dx.doi.org/10.1093/ndt/gfab027.

Full text

Abstract:

Abstract Background Primary hyperoxaluria (PH) type 3 (PH3) is caused by mutations in the hydroxy-oxo-glutarate aldolase 1 gene. PH3 patients often present with recurrent urinary stone disease in the first decade of life, but prior reports suggested PH3 may have a milder phenotype in adults. This study characterized clinical manifestations of PH3 across the decades of life in comparison with PH1 and PH2. Methods Clinical information was obtained from the Rare Kidney Stone Consortium PH Registry (PH1, n = 384; PH2, n = 51; PH3, n = 62). Results PH3 patients presented with symptoms at a median o

APA, Harvard, Vancouver, ISO, and other styles

45

Ferraro, Pietro Manuel, Chiara Caletti, Giovanna Capolongo, et al. "Diagnostic policies on nephrolithiasis/nephrocalcinosis of possible genetic origin by Italian nephrologists: a survey by the Italian Society of Nephrology with an emphasis on primary hyperoxaluria." Journal of Nephrology, June 26, 2023. http://dx.doi.org/10.1007/s40620-023-01693-x.

Full text

Abstract:

Abstract Background Primary hyperoxaluria is a genetic disorder of the metabolism of glyoxylate, the precursor of oxalate. It is characterized by high endogenous production and excessive urinary excretion of oxalate, resulting in the development of calcium oxalate nephrolithiasis, nephrocalcinosis, and, in severe cases, end-stage kidney disease and systemic oxalosis. Three different forms of primary hyperoxaluria are currently known, each characterized by a specific enzymatic defect: type 1 (PH1), type 2 (PH2), and type 3 (PH3). According to currently available epidemiological data, PH1 is by

APA, Harvard, Vancouver, ISO, and other styles

46

Hoppe, Bernd, Cristina Martin Higueras, Ulrike Herberg, Johannes Birtel, and Mark Born. "MO112SYSTEMIC OXALOSIS IN PRIMARY HYPEROXALURIA TYPE 3 – ARE THE PATIENTS AT RISK?" Nephrology Dialysis Transplantation 36, Supplement_1 (2021). http://dx.doi.org/10.1093/ndt/gfab107.001.

Full text

Abstract:

Abstract Background and Aims Primary Hyperoxaluria type 3 (PH3) is said to be the less problematic form of PH and with low risk of chronic kidney disease (CKD) and end stage renal disease. However, a recent OxalEurope registry evaluation reported both urine and plasma oxalate levels in a comparable range as in PH1 and PH2 patients. In addition, PH3 patients remain symptomatic with recurrent kidney stones, even in adulthood, and 24% of the 95 patients evaluated were on CKD ≥ 2 at last follow up. Hence, it was speculated, that PH3 patients may also be on risk to develop systemic oxalate depositi

APA, Harvard, Vancouver, ISO, and other styles

47

Chirackal, Robin S., and John C. Lieske. "Pathophysiology and Treatment of Hyperoxaluria." DeckerMed Urology, December 13, 2018. http://dx.doi.org/10.2310/uro.11017.

Full text

Abstract:

Humans cannot degrade oxalate. Thus, oxalate that is generated in the liver and/or absorbed from the intestine must be eliminated by the kidneys. Among genetic causes, primary hyperoxaluria (PH) type 1 is the most common and occurs due to deficiency of hepatic peroxisomal alanine glyoxalate aminotransferase. PH2 is caused by deficiency of lysosomal glyoxalate reductase or hydroxypyruvate reductase, whereas PH3 results from deficiency of mitochondrial 4-hydroxy-2-oxoglutarate aldolase. Enteric hyperoxaluria is caused by excessive colonic oxalate absorption due to any type of fat malabsorption.

APA, Harvard, Vancouver, ISO, and other styles

48

Pourpashang, Paniz, Arefeh Zahmatkesh, Fatemeh Nili, Zahra Pournasiri, and Farzaneh Khosropour. "End stage renal disease due to primary hyperoxaluria in a 7-month infant; a case report." Journal of Nephropathology, July 4, 2023. http://dx.doi.org/10.34172/jnp.2023.21475.

Full text

Abstract:

Primary hyperoxaluria (PH) is a rare genetic metabolic disease presented severely in infants with end-stage renal disease (ESRD). Promoting diagnosis with aggressive management is essential in these patients. Here we presented a rare case of primary hyperoxaluria type 1 (PH1) in a seven-month infant girl who underwent dialysis with prospective kidney transplantation in the future.

APA, Harvard, Vancouver, ISO, and other styles

49

Gang, Xuan, Fei Liu, and Jianhua Mao. "Lumasiran for primary hyperoxaluria type 1: What we have learned?" Frontiers in Pediatrics 10 (January 10, 2023). http://dx.doi.org/10.3389/fped.2022.1052625.

Full text

Abstract:

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive genetic disorder caused by mutations in the AGXT gene. The hepatic peroxisomal enzyme alanine glyoxylate aminotransferase (AGT) defects encoded by the AGXT gene increase oxalate production, resulting in nephrocalcinosis, nephrolithiasis, chronic kidney disease, and kidney failure. Traditional pharmacological treatments for PH1 are limited. At present, the treatment direction of PH1 is mainly targeted therapy which refer to a method that targeting the liver to block the pathway of the production of oxalate. Lumasiran (OxlumoTM, de

APA, Harvard, Vancouver, ISO, and other styles

50

Wu, Jiayu, Jing Song, Yanzhao He, et al. "Case series and literature review of primary hyperoxaluria type 1 in Chinese patients." Urolithiasis 51, no. 1 (2023). http://dx.doi.org/10.1007/s00240-023-01494-8.

Full text

Abstract:

AbstractBased on the single-center case reports and all reported patients with primary hyperoxaluria type 1 (PH1) in China, this study discussed the clinical and genetic characteristics of this disease retrospectively. We reported and validated a novel genetic variation c.302 T > G: the clinical phenotypes of the two siblings were similar, in which both had onset in infancy, mainly manifested as renal insufficiency, and died within 6 months out of end-stage renal disease. The literature review is the first to summarize the Chinese patients with PH1 up to now. Forty-eight Chinese patients we

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!