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Any propionic acidemia in which the cause of the disease is a variation in PCCB gene.
No clinical trials have been registered for PCCB-related propionic acidemia.
3 publications have been identified in PubMed for PCCB-related propionic acidemia. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).
Vela-Amieva M (2026). [PMID: 42021870](https://pubmed.ncbi.nlm.nih.gov/42021870/). *Mol Genet Metab Rep*. [Epidemiology / Natural History]
Wang S (2025). [PMID: 40075390](https://pubmed.ncbi.nlm.nih.gov/40075390/). *Orphanet J Rare Dis*. [Case Report / Case Series]
Hong S (2025). [PMID: 40618281](https://pubmed.ncbi.nlm.nih.gov/40618281/). *Hum Mol Genet*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Nov 3, 2026, 7:44 AM UTC
AI-curated news mentioning PCCB-related propionic acidemia
Updated Oct 16, 2026
A case study highlights progressive dilated cardiomyopathy as a rare manifestation of propionic acidemia in a 24-year-old man. This finding may prompt further research into the cardiovascular implications of this metabolic disorder.
A new study published in PubMed explores the clinical and genotypic spectrum of propionic acidemia in Mexico, providing valuable insights into the disease's manifestations and genetic variations. This research contributes to the understanding of propionic acidemia, which can inform future treatment approaches.
A new study explores the use of antisense oligonucleotides to skip a pseudoexon in the PCCA gene, offering potential versatility in treating propionic acidemia. This research could pave the way for innovative therapeutic strategies for this rare metabolic disorder.