Volume 75, Pages (October 2017)

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Volume 75, Pages 66-72 (October 2017) Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations Kirk L. Pappan, PhD, Adam D. Kennedy, PhD, Pilar L. Magoulas, MS, Neil A. Hanchard, MD, PhD, Qin Sun, PhD, Sarah H. Elsea, PhD Pediatric Neurology Volume 75, Pages 66-72 (October 2017) DOI: 10.1016/j.pediatrneurol.2017.06.014 Copyright © 2017 The Authors Terms and Conditions

Figure 1 Tyrosine metabolites are altered in aromatic l-amino acid decarboxylase (AADC) deficiency and in use of DOPA-containing medications. Representative images are shown. Each image shows the relative accumulation of biochemicals (red circles) or relative decreased levels (blue circles). The size of each of the circles is representative of the z score for that biochemical. Gray circles represent biochemicals in the library but not detected in the samples using Cytoscape to delineate biochemical pathways (http://cytoscape.org).24 (A) Pathway analysis showing biochemical changes associated with AADC deficiency. (B) Pathway analysis showing biochemical changes associated with DOPA treatment. Pediatric Neurology 2017 75, 66-72DOI: (10.1016/j.pediatrneurol.2017.06.014) Copyright © 2017 The Authors Terms and Conditions

Figure 2 Phenylalanine and tryptophan metabolism pathways are altered due to aromatic amino acid decarboxylase deficiency. The numbers in parentheses are z score values for phenylalanine metabolites detected in the plasma of an aromatic l-amino acid decarboxylase (AADC) patient. 3-MT, 3-methoxytyrosine; 3-MTS, 3-methoxytyramine sulfate; 5-HIAA, 5-hydroxyindoleacetic acid; 5-HT, 5-hydroxytryptamine or serotonin; VMA, vanillylmandelate; l-DOPA, l-3,4-dihydroxyphenylalanine. Pediatric Neurology 2017 75, 66-72DOI: (10.1016/j.pediatrneurol.2017.06.014) Copyright © 2017 The Authors Terms and Conditions