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

Spontaneous Achilles tendon rupture in alkaptonuria.
 

Author(s): Omar A Alajoulin, Mohammed S Alsbou, Somayya O Ja'afreh, Heba M Kalbouneh

Journal: Saudi Med J. 2015 Dec;36(12):1486-9.

 

Alkaptonuria (AKU) is a rare inborn metabolic disease characterized by accumulation of homogentisic acid (HGA). Excretion of HGA in urine causes darkening of urine and its deposition in connective tissues causes dark pigmentation (ochronosis), early degeneration of articular cartilage, ...

Last Updated: 1 Dec 2015

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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
 

Author(s): Martina Nemethova, Jan Radvanszky, Ludevit Kadasi, David B Ascher, Douglas E V Pires, Tom L Blundell, Berardino Porfirio, Alessandro Mannoni, Annalisa Santucci, Lia Milucci, Silvia Sestini, Gianfranco Biolcati, Fiammetta Sorge, Caterina Aurizi, Robert Aquaron, Mohammed Alsbou, Charles Marques Lourenço, Kanakasabapathi Ramadevi, Lakshminarayan R Ranganath, James A Gallagher, Christa van Kan, Anthony K Hall, Birgitta Olsson, Nicolas Sireau, Hana Ayoob, Oliver G Timmis, Kim-Hanh Le Quan Sang, Federica Genovese, Richard Imrich, Jozef Rovensky, Rangan Srinivasaraghavan, Shruthi K Bharadwaj, Ronen Spiegel, Andrea Zatkova

Journal: Eur. J. Hum. Genet.. 2016 Jan;24(1):66-72.

 

Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to counteract this derangement of ...

Last Updated: 15 Dec 2015

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[First report of alkaptonuria in Peru].
 

Author(s): Daniel Guillén-Mendoza, María Quiroga de Michelena

Journal: Rev Peru Med Exp Salud Publica. ;31(4):793-5.

 

Alkaptonuria is an inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD) which produces an excess of homogentisic acid (HGA). A case is presented of a 57 year old woman whose urine has turned black since birth. For 9 years she presented a greenish ...

Last Updated: 19 Jan 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 "Alkaptonuria" returned 3 free, full-text review articles on human participants. First 3 results:

Lumbar disc herniation in a patient of alkaptonuria: case report and review of literature.
 

Author(s): Prasad Krishnan, Siddhartha Roy Chowdhury

Journal: Neurol India. ;60(6):667-9.

 

Last Updated: 4 Jan 2013

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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: 20 Jan 2017

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