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Article

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

European journal of pediatrics - 1 Jan 1998

Pérez-Cerdá C, Merinero B, Martí M, Cabrera J C, Peña L, García M J, Gangoiti J, Sanz P, Rodríguez-Pombo P, Hoenicka J, Richard E, Muro S, Ugarte M

Abstract excerpt

UNLABELLED: We report a 5-year-old boy with propionic acidaemia who developed a rapidly fatal necrosis of the basal ganglia after an episode of clinical deterioration. Neither metabolic acidosis nor hyperammonaemia were present. Organic acid analysis in both urine and CSF showed increased levels of methylcitric and 3-hydroxypropionic acids. Propionic acidaemia was confirmed by demonstrating a propionyl-CoA...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9461363
DOI: 10.1007/s004310050765

Genes

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 in a previously healthy adolescent with acute onset of dilated cardiomyopathy.Semantic proximity Read ↗

Propionyl-CoA carboxylase - A review.Semantic proximity Read ↗

Unusual presentation of propionic acidaemia as isolated cardiomyopathy.Semantic proximity Read ↗

Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia.Semantic proximity Read ↗

Late-onset propionic acidemia with epilepsy due to compound heterozygous variants in the PCCB gene: a case report and literature reviewSemantic proximity Read ↗

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