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Article

Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia.

Journal of assisted reproduction and genetics - 1 Mar 2011

Alberola Trinitat M, Bautista-Llácer Rosa, Vendrell Xavier, García-Mengual Elena, Pardo Merche, Vila Maria, Calatayud Carmen

Abstract excerpt

PURPOSE: Development of an ad hoc protocol for the preimplantion genetic diagnosis of propionic acidemia in a couple carrying the mutations c.737G>T (G246V) and c.1218del14ins12 (ins/del) in the PCCB gene. Propionic acidemia is an autosomal recessive metabolic disorder where the body is unable to process certain parts of proteins and lipids. Symptoms manifest few days after birth and sometimes progress to more...

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Identifiers

PMID: 21125326
DOI: 10.1007/s10815-010-9514-4
PMCID: PMC3082661

Genes

PCCB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia.PMID 21125326Read ↗

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

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A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.Semantic proximity Read ↗

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