A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report

• Main Authors: Hai-rong Wang (Author), Yan-qiu Liu (Author), Xue-lian He (Author), Jun Sun (Author), Fan-wei Zeng (Author), Cheng-bin Yan (Author), Hao Li (Author), Shu-yang Gao (Author), Yun Yang (Author)
• Format: Book
• Published: BMC, 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. Case presentation Here we report a Chinese neonate diagnosed with suspected P...