"Alkaptonuria" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
| Descriptor ID |
D000474
|
| MeSH Number(s) |
C16.320.565.100.187 C18.452.648.100.187
|
| Concept/Terms |
Alkaptonuria- Alkaptonuria
- Homogentisic Acidura
- Alcaptonuria
- Alcaptonurias
- Homogentisic Acid Oxidase Deficiency
|
Below are MeSH descriptors whose meaning is more general than "Alkaptonuria".
Below are MeSH descriptors whose meaning is more specific than "Alkaptonuria".
This graph shows the total number of publications written about "Alkaptonuria" by people in this website by year, and whether "Alkaptonuria" was a major or minor topic of these publications.
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Below are the most recent publications written about "Alkaptonuria" by people in Profiles.
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Transcatheter Aortic Valve Replacement for Alkaptonuria-Associated Aortic Stenosis. Ann Thorac Surg. 2019 12; 108(6):e377-e379.
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Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. Semin Cardiothorac Vasc Anesth. 2017 Dec; 21(4):364-366.
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In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type mice. Mol Ther. 2012 Oct; 20(10):1981-7.
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Ochronosis in differential diagnosis of patients with chronic backache: a review of the literature. Rheumatol Int. 2007 Nov; 28(1):61-4.