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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...

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

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

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