Alkaptonuria

Common Name(s)

Alkaptonuria

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, kidney stones, and prostate stones. Alkaptonuria is caused by mutations in the HGD gene. It is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

AKU Society

The AKU Society is a patient group that helps and supports people diagnosed with AKU. We work in the UK and Europe. In the UK we help to coordinate the National AKU Centre, a treatment centre based in Liverpool, and we have recently launched an International Clinical Trial of a potential new treatment, nitisinone.

Last Updated: 22 Mar 2013

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AKU Society of North America

The AKU Society of North America is a non-profit organization that focuses on improving the quality of life of AKU patients and their families by providing education, resources, and opportunities for interaction for patients, families, and physicians associated with alkaptonuria (AKU). The Society will raise funds for support of research, education, and meetings to advance knowledge of the disease and possibilities for treatment of AKU. Funds will be raised through solicitation of donations and application for grants.

Last Updated: 15 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 "Alkaptonuria" for support, advocacy or research.

AKU Society

The AKU Society is a patient group that helps and supports people diagnosed with AKU. We work in the UK and Europe. In the UK we help to coordinate the National AKU Centre, a treatment centre based in Liverpool, and we have recently launched an International Clinical Trial of a potential new treatment, nitisinone.

http://www.akusociety.org

Last Updated: 22 Mar 2013

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AKU Society of North America

The AKU Society of North America is a non-profit organization that focuses on improving the quality of life of AKU patients and their families by providing education, resources, and opportunities for interaction for patients, families, and physicians associated with alkaptonuria (AKU). The Society will raise funds for support of research, education, and meetings to advance knowledge of the disease and possibilities for treatment of AKU. Funds will be raised through solicitation of donations and application for grants.

http://www.akusocietyna.org/

Last Updated: 15 Mar 2013

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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 "Alkaptonuria" returned 45 free, full-text research articles on human participants. First 3 results:

Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.
 

Author(s): Yasunori Tokuhara, Kenichi Shukuya, Masami Tanaka, Mariko Mouri, Ryunosuke Ohkawa, Midori Fujishiro, Tomoo Takahashi, Shigeo Okubo, Hiromitsu Yokota, Makoto Kurano, Hitoshi Ikeda, Seiji Yamaguchi, Shinobu Inagaki, Mika Ishige-Wada, Hiromi Usui, Yutaka Yatomi, Tatsuo Shimosawa

Journal:

 

Alkaptonuria, caused by a deficiency of homogentisate 1,2-dioxygenase, results in the accumulation of homogentisic acid (2,5-dihydroxyphenylacetic acid, HGA) in the urine. Alkaptonuria is suspected when the urine changes color after it is left to stand at room temperature for several ...

Last Updated: 27 Jan 2014

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A case of alkaptonuria - ultrasonographic findings.
 

Author(s): Laura Otilia Damian, Ioana Felea, Călin Boloşiu, Carolina Botar-Jid, Daniela Fodor, Simona Rednic

Journal: Med Ultrason. 2013 Dec;15(4):321-5.

 

Alkaptonuria is a rare disease with autosomal recessive inheritance and variable expression. The weight-bearing joint involvement and spondylitis-like vertebral changes occur only after the 3rd decade. Musculoskeletal ultrasonographic findings in alkaptonuria were only rarely described, ...

Last Updated: 28 Nov 2013

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Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria.
 

Author(s): Adriano Spreafico, Lia Millucci, Lorenzo Ghezzi, Michela Geminiani, Daniela Braconi, Loredana Amato, Federico Chellini, Bruno Frediani, Elena Moretti, Giulia Collodel, Giulia Bernardini, Annalisa Santucci

Journal: Rheumatology (Oxford). 2013 Sep;52(9):1667-73.

 

Alkaptonuria (AKU) is an ultra-rare autosomal recessive disease that currently lacks an appropriate therapy. Recently we provided experimental evidence that AKU is a secondary serum amyloid A (SAA)-based amyloidosis. The aim of the present work was to evaluate the use of antioxidants ...

Last Updated: 14 Aug 2013

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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 "Alkaptonuria" returned 2 free, full-text review articles on human participants. First 3 results:

Aortic valve ochronosis: a rare manifestation of alkaptonuria.
 

Author(s): Christina Maria Steger

Journal:

 

Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta. A 65-year-old woman with alkaptonuric ochronosis and a history of ...

Last Updated: 12 Jun 2012

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Are we ready to try to cure alkaptonuria?
 

Author(s): B N La Du

Journal: Am. J. Hum. Genet.. 1998 Apr;62(4):765-7.

 

Last Updated: 10 Jun 1998

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Alkaptonuria
 

Status: Recruiting

Condition Summary: Alkaptonuria

 

Last Updated: 14 Mar 2014

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Suitability of Nitisinone in Alkaptonuria 2
 

Status: Not yet recruiting

Condition Summary: Alkaptonuria

 

Last Updated: 5 Aug 2013

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