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Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Human mutation - 1 May 2009

Monnot Sophie, Serre Valérie, Chadefaux-Vekemans Bernadette, Aupetit Joelle, Romano Stéphane, De Lonlay Pascale, Rival Jean-Marie, Munnich Arnold, Steffann Julie, Bonnefont Jean-Paul

Abstract excerpt

Pyruvate carboxylase (PC), a key enzyme for gluconeogenesis and anaplerotic pathways, consists of four domains, namely, biotin carboxylase (BC), carboxyltransferase (CT), pyruvate carboxylase tetramerization (PT), and biotin carboxyl carrier protein (BCCP). PC deficiency is a rare metabolic disorder inherited in an autosomal recessive way. The most severe form (form B) is characterized by neonatal lethal lactic...

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PMID: 19306334
DOI: 10.1002/humu.20908

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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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