Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344058 | Molecular Genetics and Metabolism | 2013 | 8 Pages |
Abstract
Blood metabolite profile analysis can discriminate a heterogeneous cohort of primary mitochondrial disease both from controls and from pyruvate dehydrogenase deficiency. Elevated BCAA levels, either absolutely or when considered relative to the level of glutamate, are common metabolic sequelae of primary mitochondrial RC disease. Prospective study is needed to validate observed plasma metabolite alterations as a potential biomarker of disease both in larger cohorts and at the individual subject level.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Colleen Clarke, Rui Xiao, Emily Place, Zhe Zhang, Neal Sondheimer, Michael Bennett, Marc Yudkoff, Marni J. Falk,