Article

Integration of proteomics and metabolomics data in a novel cellular knock out model of methylmalonic acidemia

2018-11-09

Abstract excerpt

<h4>Background: </h4> Methylmalonic acidemia is a rare inborn error of metabolism caused by mutations in methylmalonyl−CoA mutase (MUT) gene. As intermediate of propionate metabolism, MUT converts methylmalonyl−CoA into succinyl−CoA, which enters the Krebs cycle. Downstream MUT deficiency, methylmalonic acid accumulates in body fluids as biomarker of disease. The long-term complications of the disease can include...

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Literature Corpus work: fa0b5aed-de7d-5b27-83d5-33f4c5fc21bd
DOI: 10.7287/peerj.preprints.27335v1

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