Alkaptonuria

Alkaptonuria is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine. As a result, a toxic tyrosine byproduct called homogentisic acid accumulates in the blood, and is excreted in urine in large amounts. Excessive homogentisic acid causes damage to cartilage and heart valves as well as precipitating as kidney stones. Treatment with nitisinone, which suppresses homogentisic acid production, is being studied. Alkaptonuria is more common in Slovakia and the Dominican Republic than in other countries. (From the Wikpedia article Alkaptonuria.)

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Recent Publications on Alkaptonuria:
From darkening urine to early diagnosis of alkaptonuria. Alkaptonuria is a rare disorder of metabolism characterized by deficiency...	17th November, 2009	Research Hospital of the Mustafa Kemal University, Hatay, Turkey.	Indian J Dermatol Venereol Leprol. 2008 Nov-Dec;74(6):700.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder,...	29th October, 2009	Medical Genetics Branch, National Human Genome Research Institute,	Hum Mutat. 2009 Sep 4. DOI Direct Link
Ochronosis: complicated tear of black meniscus. We describe a case of a previously healthy 35-year-old man who presents...	26th September, 2009	Ankara Numune Training and Research Hospital, Talatpasa Blv, Samanpazari,	Knee Surg Sports Traumatol Arthrosc. 2009 Sep 25. DOI Direct Link
A metabolic cause of spinal deformity. A 38-year-old man presented to our clinic with a 6-year history of chronic...	22nd September, 2009	Department of Rheumatology, Basel University, Burgfelderstr. 55, CH 4012	Metabolism. 2009 Sep 16. DOI Direct Link
[Intrahepatic gallstones in patient with alkaptonuria] Alkaptonuria is a rare inherited disease with enzyme deficiency in the...	25th August, 2009	Herlev Hospital, Kirurgisk afdeling D.	Ugeskr Laeger. 2009 Jun 22;171(26):2198-9.
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Alkaptonuria Clinical Trials:
Study of Alkaptonuria

Alkaptonuria Patents:
US Patent No.	Title
4889249	Urine bottle with cap
6277974	Compositions and methods for diagnosing and treating conditions, disorders, or diseases involving cell death
6309823	Arrays of nucleic acid probes for analyzing biotransformation genes and methods of using the same
6399383	Human papilloma virus vectors
6468744	Analysis of genetic polymorphisms and gene copy number
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BioPortfolio Ltd. offers e-mail and postal lists for Alkaptonuria scientists - we have details of around 74 individuals working on Alkaptonuria .