Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-11-01
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| Series: | BMC Pregnancy and Childbirth |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12884-020-03391-z |