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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

[Late diagnosis of a primary hyperoxaluria in terminal stage of chronic renal failure with severe hypoparathyroidism].
 

Author(s): Zineb El Ghali, Zineb Ait Lahcen, Wafaa Fadili, Abderrahim Idrissi Kaitouni, Mohamed Hakkou, Abderrachid Hamdaoui, Inass Laouad

Journal:

 

Last Updated: 20 Oct 2014

Go To URL
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

Go To URL
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
 

Author(s): Riccardo Montioli, Alessandro Roncador, Elisa Oppici, Giorgia Mandrile, Daniela Francesca Giachino, Barbara Cellini, Carla Borri Voltattorni

Journal: Hum. Mol. Genet.. 2014 Nov;23(22):5998-6007.

 

Primary Hyperoxaluria type I (PH1) is a rare disease due to the deficit of peroxisomal alanine:glyoxylate aminotransferase (AGT), a homodimeric pyridoxal-5'-phosphate (PLP) enzyme present in humans as major (Ma) and minor (Mi) allele. PH1-causing mutations are mostly missense identified ...

Last Updated: 22 Oct 2014

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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

Go to URL

Last Updated: 18 May 2015

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

Status: Recruiting

Condition Summary: Secondary Hyperoxaluria; Nephrolithiasis

 

Last Updated: 19 Aug 2015

Go to URL