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Article

Identification of novel compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype.

BMC medical genomics - 3 Mar 2026

Feng Xingyu, Hu Yao, Yan Huiming, Zhou Lin, Ma Na, Xiong Chulong, Xi Hui

Abstract excerpt

Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by functional deficiency of propionyl-CoA carboxylase, clinically characterized by life-threatening ketoacidosis, hyperammonemia, and multiorgan dysfunction. Due to its nonspecific clinical manifestations, PA is frequently misdiagnosed or only identified during severe metabolic crises. This study reports a Chinese family with a...

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Source

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Identifiers

PMID: 41776507
DOI: 10.1186/s12920-026-02338-1
PMCID: PMC13067572

Genes

PCCB
C3
C2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Identification of novel compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype.PMID 41776507Read ↗

Novel variants of the PCCB gene in Chinese patients with propionic acidemia.Semantic proximity Read ↗

Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.Semantic proximity Read ↗

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.Semantic proximity Read ↗

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

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.Semantic proximity Read ↗

Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from ChinaSemantic proximity Read ↗

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.Semantic proximity Read ↗

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.Semantic proximity Read ↗

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 ↗

[Phenotypes and genotypes of 78 patients with propionic acidemia].Semantic proximity Read ↗

Prevalence of propionic acidemia in ChinaSemantic proximity Read ↗

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.Semantic proximity Read ↗

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