| H00163 | |
| H number | H00163 |
| 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 disorder |
| Network | nt06016 Phenylalanine and tyrosine metabolism |
| Gene | HGD [HSA:3081] [KO:K00451] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.10 ICD-10: E70.2 MeSH: D000474 OMIM: 203500 |
| Reference | PMID:18336562 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 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 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 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 |