← all disease traces
Phenylketonuria
PAHOMIM 261600do(pah_enzyme_activity ↓)
loss of phenylalanine hydroxylase -> Phe cannot be converted to Tyr.
plasma phenylalanine concentration ↑HPO: HyperphenylalaninemiaHP:0004923
comparative-statics (steady-state) net: ↑
phenylalanine hydroxylase (PAH) catalytic activity ↓ →(-) plasma phenylalanine concentration ↑
plasma tyrosine concentration ↓HPO: HypotyrosinemiaHP:0500133
comparative-statics (steady-state) net: ?
phenylalanine hydroxylase (PAH) catalytic activity ↓ →(+) plasma tyrosine concentration ↓
phenylalanine hydroxylase (PAH) catalytic activity ↓ →(-) plasma phenylalanine concentration ↑ →(+) plasma tyrosine concentration ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.