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

• Huvudskapare: Ye Tian (Författare, medförfattare), Guojie Wang (Författare, medförfattare), Wujuan Shi (Författare, medförfattare), Xiaohong Bai (Författare, medförfattare)
• Materialtyp: Bok
• Publicerad: BMC, 2020-11-01T00:00:00Z.
• Ämnen: article
• Länkar: 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...