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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients

Figure 1

Schematic representation of the human de novo , downstream and salvage purine pathways. AICAr : 5-Amino-imidazole-4-carboxamide-1-β-D-ribofuranoside ; AICAR: AICAr 5’-monophosphate. AMP: Adenosine 5’-monophosphate; GMP: Guanosine 5’-monophosphate; IMP: Inosine 5’-monophosphate. PRPP: 5-phosphoribosyl-1-pyrophosphate. S-AMP: Succinyl-AMP. ZTP: AICAr 5’-triphosphate. Enzymes (in red): Adk: adenosine kinase; Adsl: Adenylosuccinate lyase; Atic: AICAR transformylase IMP cyclohydrolase; Aprt: Adenine phosphoribosyl Transferase; HGprt: Hypoxanthine Guanine phosphoribosyl Transferase; Pnp: Purine nucleoside phosphorylase Xo: Xanthine oxydoreductase.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172