A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria

Yasuyo Suzuki, Kazumi Oda, Yasuji Yoshikawa, Toyoki Maeda, Tomokazu Suzuki

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29 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)79-84
Number of pages6
JournalJournal of Human Genetics
Issue number2
Publication statusPublished - 1999

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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