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Article

An atypical French form of pyruvate carboxylase deficiency.

Brain & development - 1 Jan 2000

Pineda M, Campistol J, Vilaseca M A, Briones P, Ribes A, Temudo T, Pons M, Cusi V, Rolland M O

Abstract excerpt

A further case of pyruvate carboxylase deficiency, French type, with a particular clinical presentation and evolution is described. The initial neonatal symptoms started with respiratory distress, severe metabolic acidosis and a tendency to hypoglycemia. However, the clinical course was not rapidly deteriorating. At the age of 6 months he presented acute neurological symptoms, respiratory difficulty, lactic...

Topics

Amino Acids
Brain
France
Gas Chromatography-Mass Spectrometry
Humans
Infant, Newborn
Male
Phenotype
Pyruvate Carboxylase Deficiency Disease
Respiratory Distress Syndrome, Newborn
Tomography, X-Ray Computed

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7503391
DOI: 10.1016/0387-7604(95)00057-i

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7503391-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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