Hyperoxaluria

Common Name(s)

Hyperoxaluria

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperoxaluria" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

Last Updated: 19 Mar 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperoxaluria" for support, advocacy or research.

Oxalosis & Hyperoxaluria Foundation

To seek the cause, improve the clinical treatment and discover the cure of hyperoxaluria and oxalate stone disease and enhance the quality of life of patients and their families.

http://www.ohf.org/

Last Updated: 19 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperoxaluria" returned 157 free, full-text research articles on human participants. First 3 results:

Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.
 

Author(s): Non Miyata, Janos Steffen, Meghan E Johnson, Sonia Fargue, Christopher J Danpure, Carla M Koehler

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Oct;111(40):14406-11.

 

Primary hyperoxaluria 1 (PH1; Online Mendelian Inheritance in Man no. 259900), a typically lethal biochemical disorder, may be caused by the AGT(P11LG170R) allele in which the alanine:glyoxylate aminotransferase (AGT) enzyme is mistargeted from peroxisomes to mitochondria. AGT contains ...

Last Updated: 8 Oct 2014

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Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
 

Author(s): Guo-min Li, Hong Xu, Qian Shen, Yi-nv Gong, Xiao-yan Fang, Li Sun, Hai-mei Liu, Yu An

Journal:

 

Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis.

Last Updated: 4 Jul 2014

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Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice.
 

Author(s): Heike Hoyer-Kuhn, Sina Kohbrok, Ruth Volland, Jeremy Franklin, Barbara Hero, Bodo B Beck, Bernd Hoppe

Journal: Clin J Am Soc Nephrol. 2014 Mar;9(3):468-77.

 

Primary hyperoxaluria type I (PH I) is caused by deficiency of the liver-specific enzyme alanine-glyoxylate:aminotransferase (AGT). Many mutations are known to perturb AGT protein folding. Vitamin B6 (B6) is the only specific drug available for treatment. Although B6 has been used ...

Last Updated: 10 Mar 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyperoxaluria" returned 14 free, full-text review articles on human participants. First 3 results:

Combined liver and kidney transplantation in primary hyperoxaluria: a report of three cases and review of the literature.
 

Author(s): Prasad Nair, Torki Al-Otaibi, Narayanan Nampoory, Wafa'a Al-Qabandi, Tarek Said, Medhat Abdul Halim, Osama Gheith

Journal: Saudi J Kidney Dis Transpl. 2013 Sep;24(5):969-75.

 

Primary hyperoxaluria type-1 (PH-1) is a rare autosomal recessive metabolic disorder leading to excessive oxalate production, deposition of calcium oxalate crystals in the kidney, nephrocalcinosis, progressive renal failure and systemic deposition of oxalate (oxalosis). Combined liver ...

Last Updated: 13 Sep 2013

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Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.
 

Author(s): Angel L Pey, Armando Albert, Eduardo Salido

Journal: Biomed Res Int. 2013 ;2013():687658.

 

Alanine-glyoxylate aminotransferase catalyzes the transamination between L-alanine and glyoxylate to produce pyruvate and glycine using pyridoxal 5'-phosphate (PLP) as cofactor. Human alanine-glyoxylate aminotransferase is a peroxisomal enzyme expressed in the hepatocytes, the main ...

Last Updated: 19 Aug 2013

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Hyperoxaluria after modern bariatric surgery: case series and literature review.
 

Author(s): Jared M Whitson, G Bennett Stackhouse, Marshall L Stoller

Journal: Int Urol Nephrol. 2010 Jun;42(2):369-74.

 

Two recent studies have shown that modern bariatric surgery leads to significant hyperoxaluria and risk of nephrolithiasis. However, neither report evaluates the use or effects of stone risk modifying agents in these patients. We sought to determine the impact of medical management ...

Last Updated: 17 Jun 2010

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Primary Hyperoxaluria Mutation Genotyping/Phenotyping
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 13 Jan 2015

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Last Updated: 18 May 2015

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Biobank Protocol, Rare Diseases Clinical Research Network
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 16 Sep 2014

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