HGD variants in Alkaptonuria patients

Alkaptonuria (AKU) is an autosomal recessive inherited disorder interfering with tyrosine metabolism that results in painful joint destruction, cardiac valvular disease, and urolithiasis. We applied an NGS targeted panel for diagnosing AKU at a single medical center over a period of 10 years. Because alkaptonuria is rarely reported in Asia, we conducted this study to examine its characteristics in this region.