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<span>Primary hyperoxaluria</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/</span>
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<h1>Primary hyperoxaluria</h1>
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<div class="main">
<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from <a class="image-modal" data-alt="Blood with waste materials enters the kidney and is filtered in the glomeruli. From the glomeruli, the fluid containing waste products travels to the ureter and the filtered blood exits the kidney." data-caption="" data-credit="Mr. High Sky/Shutterstock.com" data-filepath="images/PX0000LG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000LG" data-sourceurl="" data-title="Kidney filtration" href="https://medlineplus.gov/images/PX0000LG_PRESENTATION.jpeg" id="PX0000LG_1" title="Show image">filtering<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> fluids and waste products from the body effectively.</p><p>Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.</p><p>There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, <a data-pid="16957" href="https://medlineplus.gov/genetics/condition/kidney-stones/">kidney stones</a> typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Mutations in the <i><a data-pid="17303" href="https://medlineplus.gov/genetics/gene/agxt/">AGXT</a></i>, <i><a data-pid="17305" href="https://medlineplus.gov/genetics/gene/grhpr/">GRHPR</a></i>, and <i><a data-pid="19623" href="https://medlineplus.gov/genetics/gene/hoga1/">HOGA1</a></i> genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (<a class="image-modal" data-alt="A string of amino acids forming a polypeptide chain." data-caption="Amino acids are a set of 20 different molecules used to build proteins. Proteins consist of one or more chains of amino acids called polypeptides. The sequence of the amino acid chain causes the polypeptide to fold into a shape that is biologically active. The amino acid sequences of proteins are encoded in the genes." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000IS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000IS" data-sourceurl="" data-title="Amino acids" href="https://medlineplus.gov/images/PX0000IS_PRESENTATION.jpeg" id="PX0000IS_4" title="Show image">amino acids<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) and other compounds. The enzyme produced from the <i>HOGA1</i> gene is involved in the breakdown of an amino acid, which results in the formation of a compound called glyoxylate. This compound is further broken down by the enzymes produced from the <i>AGXT</i> and <i>GRHPR</i> genes.</p><p>Mutations in the <i>AGXT</i>, <i>GRHPR</i>, or <i>HOGA1</i> gene lead to a decrease in production or activity of the respective proteins, which prevents the normal breakdown of glyoxylate. <i>AGXT</i> and <i>GRHPR</i> gene mutations result in an accumulation of glyoxylate, which is then converted to oxalate for removal from the body as a waste product. <i>HOGA1</i> gene mutations also result in excess oxalate, although researchers are unsure as to how this occurs. Oxalate that is not excreted from the body combines with calcium to form calcium oxalate deposits, which can damage the kidneys and other organs.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Primary hyperoxaluria</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/agxt/">AGXT</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/grhpr/">GRHPR</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/hoga1/">HOGA1</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Congenital oxaluria</li> <li>D-glycerate dehydrogenase deficiency</li> <li>Glyceric aciduria</li> <li>Glycolic aciduria</li> <li>Hepatic AGT deficiency</li> <li>Hyperoxaluria, primary</li> <li>Oxalosis</li> <li>Oxaluria, primary</li> <li>Peroxisomal alanine:glyoxylate aminotransferase deficiency</li> <li>Primary oxalosis</li> <li>Primary oxaluria</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3150878/" target="TheNewWin">Genetic Testing Registry: Primary hyperoxaluria type 3</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0020500/" target="TheNewWin">Genetic Testing Registry: Hyperoxaluria</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0020501/" target="TheNewWin">Genetic Testing Registry: Primary hyperoxaluria</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268164/" target="TheNewWin">Genetic Testing Registry: Primary hyperoxaluria, type I</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268165/" target="TheNewWin">Genetic Testing Registry: Primary hyperoxaluria, type II</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/2835/index" target="TheNewWin">Primary hyperoxaluria type 1</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://rarediseases.info.nih.gov/diseases/2836/index" target="TheNewWin">Primary hyperoxaluria type 2</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Primary hyperoxaluria%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/259900" target="TheNewWin">HYPEROXALURIA, PRIMARY, TYPE I; HP1</a></li>
<li><a href="https://omim.org/entry/260000" target="TheNewWin">HYPEROXALURIA, PRIMARY, TYPE II; HP2</a></li>
<li><a href="https://omim.org/entry/613616" target="TheNewWin">HYPEROXALURIA, PRIMARY, TYPE III; HP3</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Hyperoxaluria,+Primary%5BMAJR%5D%29+AND+%28hyperoxaluria,+primary%5BALL%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1080+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD,
Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J. Renal
function can be impaired in children with primary hyperoxaluria type 3. Pediatr
Nephrol. 2015 Oct;30(10):1807-13. doi: 10.1007/s00467-015-3090-x. Epub 2015 May
14. <a href="https://pubmed.ncbi.nlm.nih.gov/25972204" target="TheNewWin">Citation on PubMed</a></li>
<li>Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013 Aug
15;369(7):649-58. doi: 10.1056/NEJMra1301564. No abstract available. Erratum In:
N Engl J Med. 2013 Nov 28;369(22):2168. <a href="https://pubmed.ncbi.nlm.nih.gov/23944302" target="TheNewWin">Citation on PubMed</a></li>
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