Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

doi:10.1016/j.ymgme.2010.05.004

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Article

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

Molecular genetics and metabolism - 1 Sept 2010

Marin-Valencia Isaac, Roe Charles R, Pascual Juan M

Abstract excerpt

Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a critical transition that replenishes citric acid cycle intermediates and facilitates other biosynthetic reactions that drive anabolism. Its deficiency causes multiorgan metabolic imbalance that predominantly manifests with lactic acidemia and neurological dysfunction at an early age. Three...

Topics

Animals
Carbon
Humans
Oxaloacetic Acid
Phenotype
Pyruvate Carboxylase
Pyruvate Carboxylase Deficiency Disease
Pyruvic Acid

Source

Open in PubMed

Identifiers

PMID: 20598931
DOI: 10.1016/j.ymgme.2010.05.004

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