← all disease traces
Lesch-Nyhan syndrome
HPRT1OMIM 300322do(hgprt_activity ↓)
loss of HGPRT salvage de-represses de-novo purine synthesis -> urate overproduction.
plasma urate (uric acid) concentration ↑HPO: HyperuricemiaHP:0002149
comparative-statics (steady-state) net: ↑
hypoxanthine-guanine phosphoribosyltransferase (HGPRT) catalytic activity ↓ →(-) hepatic net urate (uric acid) production rate ↑ →(+) plasma urate (uric acid) concentration ↑
hypoxanthine-guanine phosphoribosyltransferase (HGPRT) catalytic activity ↓ →(-) de-novo purine biosynthesis rate (PRPP-amidotransferase committed step) ↑ →(+) hepatic net urate (uric acid) production rate ↑ →(+) plasma urate (uric acid) concentration ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.