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Article

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

BMC pregnancy and childbirth - 12 Nov 2020

Tian Ye, Wang Guojie, Shi Wujuan, Bai Xiaohong

Abstract excerpt

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 information for their reproductive options; however, it is not widely performed in China. CASE PRESENTATION: This report...

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Identifiers

PMID: 33183246
DOI: 10.1186/s12884-020-03391-z
PMCID: PMC7659086

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