| First Author | Suzuki Y | Year | 1999 |
| Journal | J Hum Genet | Volume | 44 |
| Issue | 2 | Pages | 79-84 |
| PubMed ID | 10083729 | Mgi Jnum | J:55593 |
| Mgi Id | MGI:1339007 | Doi | 10.1007/s100380050114 |
| Citation | Suzuki Y, et al. (1999) A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. J Hum Genet 44(2):79-84 |
| abstractText | Alkaptonuria is a rare autosomal recessive disorder characterized by homogentisic aciduria, ochronosis, and arthritis. Although a deficiency of homogentisic acid 1,2-dioxygenase has recently been confirmed at the molecular level, no effective treatment regimen has yet been developed for this disorder. In the present study, 2(2-nitro-4- trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), a potent inhibitor of p-hydroxyphenylpyruvate dioxygenase (which catalyzes the formation of homogentisic acid from p-hydroxyphenylpyruvic acid) was adopted as a possible therapeutic agent for alkaptonuria. NTBC dose-dependently reduced the urinary output of homogentisic acid in a murine model of alkaptonuria that had been created with ethylnitrosourea. These findings suggest that NTBC may be the first potent pharmacotherapeutic agent for alkaptonuria. |
