Hyperoxaluria

Common Name(s)

Hyperoxaluria

Hyperoxaluria is a condition that occurs when there is an excess amount of oxalate in the urine. Oxalate is a natural substance that is normally in the body and is also found in various foods, but having too much oxalate can be dangerous. Oxalate combines with calcium to form calcium oxalate, which makes kidney stones. The calcium oxalate can build up and cause kidney damage, kidney failure, and damage to other parts of the body. There are two main types of hyperoxaluria: primary and secondary. Primary hyperoxaluria is a genetic condition. There are two types of primary hyperoxaluria. Type 1 is caused by changes (mutations) in the AGXT gene and type two is caused by mutations in the GRHPR gene. Secondary hyperoxaluria occurs when a person gets too much oxalate from the foods that they eat. Foods that contain oxalate include berries, kiwis, figs, purple grapes, rhubarb, okra, leeks, spinach and chocolate.

If a person has symptoms of hyperoxaluria, such as kidney stones or kidney failure, the doctor will usually start by performing a physical exam. Additional tests are usually needed to find the issue. These may include getting images of the kidney (such as an x-ray or CT scan) or collecting a small piece of the kidney (kidney biopsy) as well as blood and urine tests. A high level of oxalate in the urine strongly suggests a diagnosis of hyperoxaluria. Genetic testing is needed to confirm a diagnosis of primary hyperoxaluria. Early diagnosis and treatment is very important in order to prevent severe problems, such as kidney failure. Treatment options depend on the type of hyperoxaluria a person has. Avoiding foods that are high in oxalate is usually recommended. A kidney transplant or dialysis may be needed to treat kidney failure. If your child has been diagnosed with hyperoxaluria, talk with their doctor to discuss current treatment recommendations. Support groups are good resources for support and additional information.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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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 168 free, full-text research articles on human participants. First 3 results:

Left ventricular hypertrabeculation/noncompaction in hyperoxaluria.
 

Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub

Journal: Turk Kardiyol Dern Ars. 2015 Sep;43(6):585-6.

 

Last Updated: 14 Sep 2015

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Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1.
 

Author(s): Guo-Yong Chen, Si-Dong Wei, Zhong-Wu Zou, Gao-Feng Tang, Jian-Jun Sun, Shao-Tang Zhou

Journal: Medicine (Baltimore). 2015 Aug;94(31):e1267.

 

Primary hyperoxaluria type I (PH1), the most severe form of primary hyperoxalurias, is a liver disease of the metabolic defect in glyoxylate detoxification that can be corrected by liver transplantation. A 21-year-old man presented to our center after 4 months of regular hemodialysis ...

Last Updated: 8 Aug 2015

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Cardiac involvement of primary hyperoxaluria accompanied by non-compaction cardiomyopathy and patent ductus arteriosus.
 

Author(s): Nurcan Arat, Murat Akyıldız, Gürkan Tellioğlu, Yaman Tokat

Journal: Turk Kardiyol Dern Ars. 2015 Apr;43(3):288-91.

 

Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. We report a 19-year-old male with non- compaction cardiomyopathy combined with patent ductus arteriosus awaiting combined liver-kidney ...

Last Updated: 24 Apr 2015

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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 16 free, full-text review articles on human participants. First 3 results:

Primary hyperoxaluria.
 

Author(s): Víctor Lorenzo, Armando Torres, Eduardo Salido

Journal: Nefrologia. 2014 May;34(3):398-412.

 

Primary hyperoxaluria (PH) occurs due to an autosomal recessive hereditary disorder of the metabolism of glyoxylate, which causes excessive oxalate production. The most frequent and serious disorder is due to enzyme deficit of alanine-glyoxylate aminotransferase (PH type I) specific ...

Last Updated: 22 May 2014

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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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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

Evaluate the Effect of ALLN-177 in Reducing Urinary Oxalate in Patients With Hyperoxaluria and Kidney Stones
 

Status: Recruiting

Condition Summary: Secondary Hyperoxaluria; Nephrolithiasis; Kidney Stones; Hyperoxaluria; Dietary Hyperoxaluria

 

Last Updated: 22 Jan 2016

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Evaluate the Effect of ALLN-177 in Reducing Urinary Oxalate in Patients With Secondary Hyperoxaluria and Kidney Stones Over 28 Days
 

Status: Recruiting

Condition Summary: Secondary Hyperoxaluria; Nephrolithiasis; Hyperoxaluria; Kidney Stones; Dietary Hyperoxaluria

 

Last Updated: 26 Jan 2016

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Primary Hyperoxaluria Mutation Genotyping/Phenotyping
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria

 

Last Updated: 17 Dec 2015

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