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<span>Alkaptonuria</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/alkaptonuria/</span>
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<article>
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<div class="page-title">
<a name="start" id="start"></a>
<h1>Alkaptonuria</h1>
</div>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, <a data-pid="16957" href="https://medlineplus.gov/genetics/condition/kidney-stones/">kidney stones</a>, and prostate stones.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic.</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="17239" href="https://medlineplus.gov/genetics/gene/hgd/">HGD</a></i> gene cause alkaptonuria. The <i>HGD</i> gene provides instructions for making an enzyme called homogentisate oxidase. <a class="image-modal" data-alt="The metabolic pathway affected in alkaptonuria. Alkaptonuria is characterized by deficiency of homogentisate 1,2-dioxygenase, which converts homogentisic acid (HGA) to maleylacetoacetic acid." data-caption="" data-credit="GeneReviews, © 1993-2020 University of Washington" data-filepath="images/PX000338_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000338" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1454/figure/alkap.F2/?report=objectonly" data-title="The metabolic pathway affected in alkaptonuria" href="https://medlineplus.gov/images/PX000338_PRESENTATION.jpeg" id="PX000338_2" title="Show image">This enzyme helps break down<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the <i>HGD</i> gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in <a class="image-modal" data-alt="Components of connective tissue, labelled, including collagen fibers, elastic fibers, reticular fibers, capillaries, fat cells and other cell types." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000S4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000S4" data-sourceurl="" data-title="Connective tissues" href="https://medlineplus.gov/images/PX0000S4_PRESENTATION.jpeg" id="PX0000S4_3" title="Show image">connective tissues<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Alkaptonuria</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/hgd/">HGD</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>AKU</li> <li>Alcaptonuria</li> <li>Homogentisic acid oxidase deficiency</li> <li>Homogentisic acidura</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/C0002066/" target="TheNewWin">Genetic Testing Registry: Alkaptonuria</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/5775/index" target="TheNewWin">Alkaptonuria</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=%22Alkaptonuria%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/203500" target="TheNewWin">ALKAPTONURIA; AKU</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=%28Alkaptonuria%5BMAJR%5D%29+AND+%28alkaptonuria%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+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>Introne WJ, Perry M, Chen M. Alkaptonuria. 2003 May 9 [updated 2021 Jun 10].
In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors.
GeneReviews(R) [Internet]. Seattle (WA): University of Washington,
Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1454/
<a href="https://pubmed.ncbi.nlm.nih.gov/20301627" target="TheNewWin">Citation on PubMed</a></li>
<li>Lubics A, Schneider I, Sebok B, Havass Z. Extensive bluish gray skin
pigmentation and severe arthropathy. Endogenous ochronosis (alkaptonuria). Arch
Dermatol. 2000 Apr;136(4):548-9, 551-2. doi: 10.1001/archderm.136.4.547-b. No
abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/10768658" target="TheNewWin">Citation on PubMed</a></li>
<li>Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, Andreotti L,
Marcolongo R, Porfirio B. Alkaptonuria, ochronosis, and ochronotic arthropathy.
Semin Arthritis Rheum. 2004 Feb;33(4):239-48. doi: 10.1053/s0049-0172(03)00080-5.
<a href="https://pubmed.ncbi.nlm.nih.gov/14978662" target="TheNewWin">Citation on PubMed</a></li>
<li>Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick
DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Natural history of
alkaptonuria. N Engl J Med. 2002 Dec 26;347(26):2111-21. doi:
10.1056/NEJMoa021736. <a href="https://pubmed.ncbi.nlm.nih.gov/12501223" target="TheNewWin">Citation on PubMed</a></li>
<li>Ranganath LR, Jarvis JC, Gallagher JA. Recent advances in management of
alkaptonuria (invited review; best practice article). J Clin Pathol. 2013
May;66(5):367-73. doi: 10.1136/jclinpath-2012-200877. Epub 2013 Mar 13. <a href="https://pubmed.ncbi.nlm.nih.gov/23486607" target="TheNewWin">Citation on PubMed</a></li>
<li>Zatkova A. An update on molecular genetics of Alkaptonuria (AKU). J Inherit
Metab Dis. 2011 Dec;34(6):1127-36. doi: 10.1007/s10545-011-9363-z. Epub 2011 Jul
1. <a href="https://pubmed.ncbi.nlm.nih.gov/21720873" target="TheNewWin">Citation on PubMed</a></li>
</ul>
</div>
</section>
</div>
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<a class="image-modal" id="14300_featured" href="https://medlineplus.gov/images/PX000331_PRESENTATION.jpeg"
data-filepath="images/PX000331_PRESENTATION.jpeg"
data-title="Features of alkaptonuria"
data-caption="Photo A shows ochronosis of they eye. Photo B shows ochronosis of the ear. Photo C shows an x-ray image of the lower spine with disc flattening, calcification, and osteophyte formation."
data-credit="GeneReviews, © 1993-2020 University of Washington"
data-alt="Photo A shows ochronosis of they eye. Photo B shows ochronosis of the ear. Photo C shows an x-ray image of the lower spine with disc flattening, calcification, and osteophyte formation."
data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1454/figure/alkap.F1/?report=objectonly">
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<h2>Related Health Topics</h2>
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<li><a href="https://medlineplus.gov/aminoacidmetabolismdisorders.html">Amino Acid Metabolism Disorders</a></li>
<li><a href="https://medlineplus.gov/geneticdisorders.html">Genetic Disorders</a></li>
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<h2>MEDICAL ENCYCLOPEDIA</h2>
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<li><a href="https://medlineplus.gov/ency/article/001200.htm">Alkaptonuria</a></li>
<li><a href="https://medlineplus.gov/ency/article/002048.htm">Genetics</a></li>
</ul>
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<li><a href="https://medlineplus.gov/genetics/understanding/consult/prognosis/">What is the prognosis of a genetic condition?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/">How can gene variants affect health and development?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/runsinfamily/">What does it mean if a disorder seems to run in my family?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/">What are the different ways a genetic condition can be inherited?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/consult/treatment/">How are genetic conditions treated or managed?</a></li>
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