Abstract
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.
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Received: October 5, 1998 / Accepted: November 2, 1998
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Suzuki, Y., Oda, K., Yoshikawa, Y. et al. A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. J Hum Genet 44, 79–84 (1999). https://doi.org/10.1007/s100380050114
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DOI: https://doi.org/10.1007/s100380050114
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