Alkaptonuria
Synonyms: Hereditary ochronosis | Homogentisic acid oxidase deficiency
A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA) in various tissues (e.g. cartilage connective tissue) and body fluids (urine sweat) causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis) and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Alkaptonuria?
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Advocacy Organizations
AKU Society
Transforming the lives of AKU patients; through patient support, community building and medical research.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.