Novel variants of the PCCB gene in Chinese patients with propionic acidemia

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by a deficiency of propionyl-CoA carboxylase and mutations in the PCCA and PCCB genes. In this study, we investigated the clinical characteristics of individuals with PA and conducted genetic analyses to provide new genetic evidence for the diagnosis of PA.We conducted whole-exome sequencing and Sanger sequencing in four individuals with PA from three unrelated Chinese...