Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism

ConclusionsWith the best predictor of survival and positive cognitive outcome in PDCD being age of diagnosis, PDCD patients would benefit from use of such highly SN and SP AA ratio combination cutoffs as biomarkers for early identification of at-risk newborns, infants, and children, for early intervention(s) with known and/or novel therapeutics for this disorder.

Source: Molecular Genetics & Genomic Medicine - September 9, 2023 Category: Genetics & Stem Cells Authors: Anisha Verma, April N. Lehman, Hatice Gokcan, Lorna Cropcho, Danielle Black, Steven F. Dobrowolski, Jerry Vockley, Jirair K. Bedoyan Tags: ORIGINAL ARTICLE Source Type: research