 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 |
|
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 Harvard Catalyst Profiles by year, and whether "Alkaptonuria" was a major or minor topic of these publication.
Below are the most recent publications written about "Alkaptonuria" by people in Profiles.
-
Shimizu I, Hamada T, Khalpey Z, Miyanishi K, Hara T. Ochronotic arthropathy: pathological evidence of acute destruction of the hip joint. Clin Rheumatol. 2007 Jul; 26(7):1189-91.
-
Pollak MR, Chou YH, Cerda JJ, Steinmann B, La Du BN, Seidman JG, Seidman CE. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet. 1993 Oct; 5(2):201-4.
-
Irons M, Levy HL. Metabolic syndromes with dermatologic manifestations. Clin Rev Allergy. 1986 Feb; 4(1):101-24.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|