The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China

The incidence and genetic mutation spectrum of HPA in Yunnan Province, Southwest China, exhibit distinctive characteristics when compared with other regions in China and international reports. These differences may be attributed to the unique geographical distribution of HPA patients and ethnic-specific genetic characteristics in this region. Furthermore, specific genetic mutations demonstrate potential associations with clinical phenotypes in PAHD. The novel PAH mutations identified in this study have expanded the current PAH gene database.