Alkaptonuria
"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".
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Below are the most recent publications written about "Alkaptonuria" by people in Profiles.