Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration. More detailed information about the symptoms, causes, and treatments of Alkaptonuria is available below.
See full list of 31 symptoms of Alkaptonuria
Read more about complications of Alkaptonuria.
Research the causes of these diseases that are similar to, or related to, Alkaptonuria:
Read more about causes of Alkaptonuria.
More information about causes of Alkaptonuria:
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Visit our research pages for current research about Alkaptonuria treatments.
The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Alkaptonuria include:
Read more about Clinical Trials for Alkaptonuria
Read about other experiences, ask a question about Alkaptonuria, or answer someone else's question, on our message boards:
An inborn error of amino acid metabolism resulting from a defect in the enzyme homogentisate 1,2-dioxygenase and causing an accumulation of homogentisic acid in the urine. The condition is characterized by ochronosis in various tissues and arthritis. - (Source - Diseases Database)
Alkaptonuria is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Alkaptonuria, or a subtype of Alkaptonuria,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Alkaptonuria as a "rare disease".
Source - Orphanet
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