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Pathway Description
Pyruvate Carboxylase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-12-07
Pyruvate carboxylase deficiency is caused by mutation in the pyruvate carboxylase gene. Serine—pyruvate aminotransferase catalyzes the reaction of serine and pyruvate to produce 3-hydroxypyruvate and L-alanine, as well as the reaction from L-alanine and glyodxylate to pyruvate and glycine. A defect in this results in accumulation of ammonia, glucose and pyruvate in blood; proline, lysine, citrulline, and alanine in plasma; and 2-oxoglutaric acid, fumaric acid, ketone bodies and succinate in urine. Symptoms include ataxia, lactic acidosis, mental retardation, metabolic acidosis, siezures, and dyspnea.
References
Pyruvate Carboxylase Deficiency References
[OMIM: Entry 266150](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266150)
[Uniprot: P11498](http://www.uniprot.org/uniprot/P11498)
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Wang D, De Vivo D: Pyruvate Carboxylase Deficiency
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Alanine Metabolism References
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Pubmed: 961915
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