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

• 主要な著者: Hai-rong Wang (著者), Yan-qiu Liu (著者), Xue-lian He (著者), Jun Sun (著者), Fan-wei Zeng (著者), Cheng-bin Yan (著者), Hao Li (著者), Shu-yang Gao (著者), Yun Yang (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...