Primary hyperoxaluria type 1

An autosomal recessive form of primary hyperoxaluria, where CALCIUM OXALATE accumulates in different tissues, especially the KIDNEY, resulting in RENAL FAILURE. Mutations in the AGXT gene have been identified. OMIM: 259900

Also Known As:

Alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria; Hepatic AGT Deficiency; Hyperoxaluria, Primary, Type I; Oxalosis 1; Oxalosis I; Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency; Peroxisomal alanine glyoxylate aminotransferase deficiency; Serine:Pyruvate Aminotransferase Deficiency

Networked: 359 relevant articles (7 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Renal Insufficiency (Renal Failure)
2.	Nephrocalcinosis
3.	Urolithiasis
4.	Hyperoxaluria (Oxaluria)
5.	Chronic Kidney Failure (Chronic Renal Failure)

Experts

1.	Cochat, Pierre: 16 articles (02/2022 - 01/2005)
2.	Lieske, John C: 14 articles (09/2022 - 01/2020)
3.	Fargue, Sonia: 14 articles (05/2022 - 08/2006)
4.	Salido, Eduardo: 13 articles (01/2019 - 06/2009)
5.	Rumsby, Gill: 12 articles (01/2020 - 09/2004)
6.	Danpure, Christopher J: 11 articles (09/2016 - 04/2003)
7.	Frishberg, Yaacov: 9 articles (07/2022 - 05/2005)
8.	Groothoff, Jaap W: 9 articles (07/2022 - 08/2004)
9.	Bacchetta, Justine: 8 articles (05/2022 - 03/2010)
10.	Hoppe, Bernd: 8 articles (02/2022 - 05/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Primary hyperoxaluria type 1:

1.	lumasiranIBA 01/01/2021 - "Case Report: Sustained Efficacy of Lumasiran at 18 Months in Primary Hyperoxaluria Type 1." 01/01/2023 - "Lessons for the clinical nephrologist: lumasiran as the future cornerstone treatment for patients with primary hyperoxaluria type 1?" 02/01/2023 - "Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial." 01/01/2023 - "Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial." 01/01/2021 - "Study of Lumasiran in Healthy Adults and Patients with Primary Hyperoxaluria Type 1, NCT02706886."
2.	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/01/2021 - "Recovery From Dialysis in Patients With Primary Hyperoxaluria Type 1 Treated With Pyridoxine: A Report of 3 Cases." 06/01/2014 - "Sustained pyridoxine response in primary hyperoxaluria type 1 recipients of kidney alone transplant." 10/01/2013 - "Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1." 05/06/2015 - "Pyridoxine is also found to be helpful in approximately 30% patients with primary hyperoxaluria type 1. Liver-kidney and isolated kidney transplantation are the treatment of choice in primary hyperoxaluria type 1 and type 2 respectively. " 07/01/2022 - "Until recently, the treatment options were limited and focused primarily on supportive treatments, pyridoxine use in a subset of patients with primary hyperoxaluria type 1, and liver-kidney transplants in those who progressed to kidney failure. "
3.	OxalatesIBA 12/01/2001 - "To evaluate the short-term efficacy of (l)-2-oxothiaolidine-4-carboxylate (OTZ, which reduces urinary oxalate excretion in normal subjects) in the treatment of primary hyperoxaluria type 1 (PH1) in a phase II study. " 12/01/2001 - "The purpose of this study was to evaluate oxalate mass removal using various dialysis modes in a patient suffering from primary hyperoxaluria type 1 (PH1). " 01/01/2024 - "Natural history of urine and plasma oxalate in children with primary hyperoxaluria type 1." 11/18/2023 - "Multiplex gene editing reduces oxalate production in primary hyperoxaluria type 1." 01/01/2022 - "The appearance of oxalate crystals in a kidney biopsy is no proof of post-transplant oxalate nephropathy in primary hyperoxaluria type 1."
4.	glycolic acid (glycolate)IBA 03/15/2023 - "Furthermore this method might be readily implemented into routine clinical diagnostic laboratories for glycolate measurements in primary hyperoxaluria type 1." 03/15/2023 - "Simple, fast and inexpensive quantification of glycolate in the urine of patients with primary hyperoxaluria type 1." 06/30/2023 - "Plasma oxalate and glycolate concentrations in dialysis patients with and without primary hyperoxaluria type 1." 03/15/2023 - "In primary hyperoxaluria type 1 excessive endogenous production of oxalate and glycolate leads to increased urinary excretion of these metabolites. " 07/01/2017 - "These findings and markedly increased concentrations of glycolate in the urine of the four affected potoroos for which it was measured, confirmed a disorder of oxalate metabolism and suggested a condition similar to primary hyperoxaluria type 1 in humans. "
5.	glycollate oxidaseIBA 09/27/2016 - "High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1." 08/01/2014 - "Our results pinpoint the expression of defective splice variant of glycolate oxidase as the cause of isolated asymptomatic glycolic aciduria. " 08/01/2014 - "Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria." 01/01/2023 - "Glycolate oxidase inhibition by lumasiran varies between patients with primary hyperoxaluria type 1." 01/01/2020 - "HAO1 (glycolate oxidase) silencing is the mechanism of lumasiran, an investigational RNA interference therapeutic for primary hyperoxaluria type 1. Her plasma glycolate levels were 12 times, and urinary glycolate 6 times, the upper limit of normal observed in healthy reference individuals (n = 67). "
6.	Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)IBA 09/01/1988 - "Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1." 01/01/2023 - "Primary Hyperoxaluria Type 1 (PH1) is a rare autosomal disease caused by mutations in AGXT that lead to the deficiency of alanine:glyoxylate aminotransferase (AGT). " 06/19/2020 - "Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. " 01/01/2018 - "Primary hyperoxaluria type 1 (PH1) is an inherited disease caused by mutations in alanine-glyoxylate aminotransferase (AGXT). " 01/01/2017 - "Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT). "
7.	glyoxylic acid (glyoxylate)IBA 01/01/2019 - "Primary Hyperoxaluria Type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism. " 01/01/2018 - "Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. " 05/01/2011 - "Primary hyperoxaluria type 1 is a rare disorder caused by a defect in the hepatic metabolism of glyoxylate. " 08/01/2004 - "Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism with an extensive clinical and genetic heterogeneity. " 03/15/2012 - "Primary hyperoxaluria type 1 (PH1) and type 2 (PH2) are rare genetic diseases that result from deficiencies in glyoxylate metabolism. "
8.	Calcium OxalateIBA 01/01/2013 - "Primary hyperoxaluria type 1 with systemic calcium oxalate deposition: case report and literature review." 06/01/2010 - "The deposition of calcium oxalate crystals in the kidney and bone is a hallmark of primary hyperoxaluria type 1 (PH1). " 05/01/2022 - "Primary hyperoxaluria type 1 (PH1) is a rare genetic form of calcium oxalate kidney stone disease. " 01/01/2021 - "A diagnosis of primary hyperoxaluria type 1 (PH1) due to homozygous splice donor mutation (AGXT c.680+1G>A) was made with kidney and cutaneous pathology demonstrating calcium oxalate deposition and ultrasound suggestive of nephrocalcinosis. " 01/01/2021 - "formigenes in healthy volunteers and in patients with primary hyperoxaluria type 1 (PH1), a rare but severe form of calcium oxalate kidney stone disease, are also discussed. "
9.	Glycine (Aminoacetic Acid)FDA LinkGeneric 06/04/1999 - "Because an important role in the conversion of glyoxylate to glycine has been assigned to peroxisomal SPT/AGT from the studies on primary hyperoxaluria type 1, these results suggest that SPT/AGT in this organelle plays dual roles in the metabolism of glyoxylate and serine." 02/26/2008 - "However, drugs that exploit the unique structural features of GO may ultimately prove to be useful for decreasing glycolate and glyoxylate levels in primary hyperoxaluria type 1 patients who have the inability to convert peroxisomal glyoxylate to glycine." 05/01/1992 - "A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1." 01/01/1988 - "The subcellular metabolism of glyoxylate in primary hyperoxaluria type 1: the relationship between glycine production and oxalate overproduction." 01/01/2017 - "In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. "
10.	Serine (L-Serine)FDA Link 06/04/1999 - "Because an important role in the conversion of glyoxylate to glycine has been assigned to peroxisomal SPT/AGT from the studies on primary hyperoxaluria type 1, these results suggest that SPT/AGT in this organelle plays dual roles in the metabolism of glyoxylate and serine." 01/01/1996 - "Energy-dependent degradation of a mutant serine: pyruvate/alanin: glyoxylate aminotransferase in a primary hyperoxaluria type 1 case." 11/01/1992 - "A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1." 12/01/1993 - "ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case." 12/01/1993 - "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). "

Therapies and Procedures

1.	Kidney Transplantation 01/01/2023 - "The current surgical management of primary hyperoxaluria type 1 (PH1) is combined liver kidney transplantation. " 01/01/2023 - "Long-term outcome after combined or sequential liver and kidney transplantation in children with infantile and juvenile primary hyperoxaluria type 1." 05/01/2022 - "Liver or combined liver/kidney transplantation is currently the only definitive treatment for primary hyperoxaluria type 1, but novel RNA interference treatments offer hope for the future. " 06/01/2021 - "Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? " 12/01/2020 - "Recently, the mainstream curative treatment for primary hyperoxaluria type 1 (PH1) is combined liver and kidney transplantation, and only kidney transplantation is considered ineffective for most PH1 patients. "
2.	Liver Transplantation 08/15/2001 - "Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children." 02/16/2023 - "Effect of liver transplantation with primary hyperoxaluria type 1: Five case reports and review of literature." 01/01/2023 - "Long-term outcomes after pre-emptive liver transplantation in primary hyperoxaluria type 1." 01/01/2021 - "Liver Transplantation in Primary Hyperoxaluria Type 1: We Have to Find an Alternative!" 01/01/2021 - "Liver transplant can be considered a treatment for patients with primary hyperoxaluria type 1. Combined liver and kidney transplant and preemptive liver transplant could be proper options for these patients."
3.	Therapeutics 05/01/2022 - "Primary hyperoxaluria type 1: novel therapies at a glance." 01/17/2022 - "This condition has been nearly incurable until recently, as significant advances in substrate reduction therapy using small interference RNA led to a breakthrough in primary hyperoxaluria type 1 treatment." 01/01/2022 - "New therapeutics for primary hyperoxaluria type 1." 10/01/2020 - "Thus, our results demonstrate that this partially humanized AgxtD205N rat strain is a high-performing model of primary hyperoxaluria type 1 for understanding pathology, and the development of novel therapeutics, such as reprogramming of the metabolic pathway through genome editing." 12/01/2021 - "Here we present the case of a child diagnosed with primary hyperoxaluria type 1 after kidney transplant who was able to maintain kidney function, thanks to aggressive renal replacement therapy as well as initiation of a new targeted therapy for this disease. "
4.	RNAi Therapeutics 01/01/2022 - "Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children." 11/11/2021 - "Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. Reply." 11/11/2021 - "Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1." 01/01/2021 - "Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1."
5.	Transplantation 12/01/2020 - "Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives." 07/01/2011 - "In the future, primary hyperoxaluria type 1 may benefit from hepatocyte transplantation, chaperone molecules, etc." 05/15/2009 - "Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth." 07/01/1996 - "Transplantation procedures in primary hyperoxaluria type 1." 01/01/1995 - "Transplantation in primary hyperoxaluria type 1."