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Article

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

Molecular genetics and metabolism - 1 Jan 2003

Pérez B, Desviat L R, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M

Abstract excerpt

Propionic acidemia is an inherited metabolic disease caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC), one of the four biotin-dependent enzymes. PCC is a multimeric protein composed of two different alpha- and beta-PCC subunits, nuclearly encoded by the PCCA and PCCB genes, respectively. Mutations in either gene cause the clinically heterogeneous disease propionic acidemia. In...

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Source

Identifiers

PMID: 12559849
DOI: 10.1016/s1096-7192(02)00197-x

Genes

PCCA
PCCB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.PMID 12559849Read ↗

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Functional characterization of PCCA mutations causing propionic acidemia.Semantic proximity Read ↗

Mutation analysis in 54 propionic acidemia patients.Semantic proximity Read ↗

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.Semantic proximity Read ↗

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.Semantic proximity Read ↗

Structure of the PCCA gene and distribution of mutations causing propionic acidemia.Semantic proximity Read ↗

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.Semantic proximity Read ↗

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