| Entry |
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| Name |
Alkaptonuria |
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| 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.
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| Category |
Inherited metabolic disease
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| 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
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| Pathway |
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| Network |
nt06016 Phenylalanine and tyrosine metabolism |
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| Element |
| N00712 | HGD deficiency in tyrosine degradation |
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| Gene |
HGD; homogentisate 1,2-dioxygenase [HSA: 3081] [KO: K00451]
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| Other DBs |
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| Reference |
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| Authors |
Helliwell TR, Gallagher JA, Ranganath L |
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| Title |
Alkaptonuria--a review of surgical and autopsy pathology. |
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| Journal |
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| Reference |
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| Authors |
La Du BN Jr |
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| Title |
Are we ready to try to cure alkaptonuria? |
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| Journal |
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| Reference |
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| Authors |
Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S |
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| Title |
The molecular basis of alkaptonuria. |
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| Journal |
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| Reference |
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| Authors |
Cox TM |
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| Title |
Alkaptonuria: leading to the treasure in exceptions. |
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| Journal |
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| LinkDB |
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