Pyruvate carboxylase deficiency
Definition:
Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate.
References:
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[1]. Dong Wang, et al. The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. Mol Genet Metab. 2008 Sep-Oct;95(1-2):31-8. [Content Brief]
[2]. Manop Pithukpakorn, et al. Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Mol Genet Metab. 2005 Aug;85(4):243-6. [Content Brief]
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