Fig. 3
From: Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations
Visualization of theoretical overlap between biochemical urine markers for individual IMDs in the purine, pyrimidine, and urea cycle pathways. Rows are linked to individual phenotypes (right axis), and clustered (left axis) based on their overlapping biomarker profiles (bottom axis). Protein names correspond to the following disorders: ADA: Adenosine deaminase deficiency, SLC25A13: Citrin deficiency, ARG1: Arginase deficiency, DGUOK: Deoxyguanosine kinase deficiency, CPS1: Carbamoyl phosphate synthetase I deficiency, NAGS: N-Acetylglutamate synthase deficiency, NT5C3A: Pyrimidine 5-nucleotidase superactivity, AGXT2: Beta-aminoisobutyrate-pyruvate transaminase deficiency, SLC25A15: Ornithine transporter deficiency, OTC: Ornithine transcarbamylase deficiency, APRT: Adenine phosphoribosyltransferase deficiency, ADSL: Adenyl- succinate lyase deficiency, ATIC: AICAr transformylase/IMP cyclohydrolase deficiency, UMPS: Orotic aciduria type I, ASL: Argininosuccinic aciduria, ASS1: Citrullinemia type I, XAN2: Xanthinuria, Type II, XO: Xanthinuria, Type I, PNP: Purine nucleoside phosphorylase deficiency, HPRT1_less: Kelley-Seegmiller syndrome, HPRT1: Lesch-Nyhan syndrome, PRPS1: Phosphoribosyl pyrophosphate synthetase 1 superactivity, DPYD: Dihydropyrimidine dehydrogenase deficiency, DPYS: Dihydropyrimidinase deficiency, UPB1: Beta-ureidopropionase deficiency HMDB IDs resemble these metabolites: HMDB0000026: N-Carbamyl-beta-alanine, HMDB0000034: Adenine, HMDB0000052: Argininosuccinate, HMDB0000071: Deoxyinosine, dIno, HMDB0000076: Dihydrouracil, HMDB0000079: Dihydrothymine, HMDB0000085: Purine nucleoside phosphorylase, HMDB0000101: Deoxyadenosine, HMDB0000143: Galactose, HMDB0000157: Hypoxanthine, HMDB0000226: Orotic acid, HMDB0000262: Thymine, HMDB0000289: Uric acid, HMDB0000292: Xanthine, HMDB0000300: Uracil, HMDB0000401: 2,8-Dihydroxyadenine, HMDB0000635: Succinylacetone, HMDB0000679: Homocitrulline, HMDB0000797: SAICA riboside, HMDB0000904: Citrulline, HMDB0000912: Succinyladenosine, HMDB0002299: beta-aminoisobutyrate, HMDB0062179: AICA riboside. Additional biomarkers relevant for this specific patient (not part of IEMbase data): HMDB0000489: N-Aspartylglucosamine, HMDB0000469: 5-(Hydroxymethyl)uracil, HMDB0000721: Gly-pro, HMDB0002166: (S)-Beta-aminoisobutyrate