← all disease traces
Maple syrup urine disease
BCKDHOMIM 248600do(bckdh_enzyme_activity ↓)
loss of branched-chain alpha-keto acid dehydrogenase -> BCAA accumulate.
plasma branched-chain amino acids (leucine / isoleucine / valine) ↑HPO: Elevated circulating branched chain amino acid concentrationHP:0008344
comparative-statics (steady-state) net: ↑
branched-chain alpha-keto acid dehydrogenase (BCKDH) catalytic activity ↓ →(-) plasma branched-chain amino acids (leucine / isoleucine / valine) ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.