Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation

• Main Authors: Ye Tian (Author), Guojie Wang (Author), Wujuan Shi (Author), Xiaohong Bai (Author)
• Formato: Livro
• Publicado em: BMC, 2020-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Propionic acidemia (PA) is a severe monogenic disorder characterized by a deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) enzyme, which is caused by mutations in the PCCA or PCCB gene. Preconception carrier screening could provide couples with meaningful i...