First report of HGD mutations in a Chinese with alkaptonuria.

摘要: Alkaptonuria (AKU) is one of the first prototypic inborn errors in metabolism and human disease found to be transmitted via Mendelian autosomal recessive inheritance. It caused by HGD mutations, which leads a deficiency homogentisate 1,2-dioxygenase (HGD) activity. To date, several mutations have been identified as cause across different ethnic populations worldwide. However, Asia, mutation very rarely reported. For Chinese population, no literature on screening available date. In this paper, we describe two novel AKU family, splicing IVS7+1G>C, donor splice site exon 7, missense F329C 12. The predicted new mutated 7 sequence demonstrated 303bp extension after site. most probably disturbed stability conformation loops critical Fe(2+) active enzyme.