KEGG   DISEASE: AlkaptonuriaHelp
Entry
H00163                      Disease                                

Name
Alkaptonuria
Description
Alkaptonuria is a rare, inherited defect of homogentisic acid 1,2-dioxygenase that leads to the widespread deposition of polymeric homogentisic acid, and clinical symptoms from degeneration of joints and the aortic valve.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00163  Alkaptonuria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00163  Alkaptonuria
BRITE hierarchy
Pathway
hsa00350  Tyrosine metabolism
Network
nt06016  Phenylalanine and tyrosine metabolism
  Element
N00712  HGD deficiency in tyrosine degradation
Gene
HGD; homogentisate 1,2-dioxygenase [HSA:3081] [KO:K00451]
Other DBs
ICD-11: 5C50.10
ICD-10: E70.2
MeSH: D000474
OMIM: 203500
Reference
  Authors
Helliwell TR, Gallagher JA, Ranganath L
  Title
Alkaptonuria--a review of surgical and autopsy pathology.
  Journal
Histopathology 53:503-12 (2008)
DOI:10.1111/j.1365-2559.2008.03000.x
Reference
PMID:9529368
  Authors
La Du BN Jr
  Title
Are we ready to try to cure alkaptonuria?
  Journal
Am J Hum Genet 62:765-7 (1998)
DOI:10.1086/301810
Reference
PMID:8782815
  Authors
Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S
  Title
The molecular basis of alkaptonuria.
  Journal
Nat Genet 14:19-24 (1996)
DOI:10.1038/ng0996-19
Reference
PMID:23430917 (treatment)
  Authors
Cox TM
  Title
Alkaptonuria: leading to the treasure in exceptions.
  Journal
JIMD Rep 5:49-57 (2012)
DOI:10.1007/8904_2011_93
LinkDB All DBs

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