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

• Egile Nagusiak: Ye Tian (Egilea), Guojie Wang (Egilea), Wujuan Shi (Egilea), Xiaohong Bai (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...