EC Number   |
Application |
Reference |
|---|
    1.13.11.5 | diagnostics |
crude enzyme preparations can be used for a spectrophotometric method for routine, sensitive determination of homogentisate in human urine |
439389 |
| 1.13.11.5 | medicine |
- |
439390, 439392 |
| 1.13.11.5 | medicine |
alkaptonuria: rare hereditary disorder of the phenylalanine catabolism, patients are deficient in homogentisate 1,2-dioxygenase and carry two copies of a loss-of-function allele of HGO gene, disease causes homogentisic aciduria, ochronosis and arthritis |
439387 |
| 1.13.11.5 | medicine |
HGO deficiency causes alkaptonuria, inherited as a recessive Mendelian trait, HGO inhibitors may be useful in the treatment of hereditary tyrosinemia type I, HT1 |
439392 |
| 1.13.11.5 | medicine |
HGO gene is responsible for alkaptonuria |
439388 |
| 1.13.11.5 | medicine |
inactivation of enzyme in kidney and liver causes the basic defect of alkaptonuria |
439390 |
| 1.13.11.5 | medicine |
missense mutation in exon 13 (G360R) and exon 3 (K57N) affecting homogentisate 1,2-dioxygenase function by interfering with substrate traffic at active site causing alkaptonuria, a rare recessive phanylalanine/tyrosine metabolism disorder |
697403 |
