Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia

• Main Authors: Qi Yang (Author), Hong Xu (Author), Jingsi Luo (Author), Mengting Li (Author), Sheng Yi (Author), Qinle Zhang (Author), Guoxing Geng (Author), Shihan Feng (Author), Xin Fan (Author)
• Format: Book
• Published: BMC, 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either of the two genes PCCA or PCCB. The present study aimed to identify the g...