Enzymes & cofactors
Search by name, gene symbol, EC number or the disorder it causes. Open any enzyme to see every reaction it catalyses, what accelerates it and what inhibits it.
PDC deficiency (X-linked): lactic acidosis, neurological disease; thiamine-responsive forms
GCK mutations: MODY2; HK1 deficiency: haemolytic anaemia
GCK mutations: MODY2; HK1 deficiency: haemolytic anaemia
Tarui disease (GSD VII): exercise intolerance, haemolysis
PK deficiency: chronic non-spherocytic haemolytic anaemia
TPP-dependent; erythrocyte transketolase activity assesses thiamine status
Requires the same five cofactors as PDC; thiamine-sensitive
Inhibited by oligomycin; bypassed by uncouplers (DNP, UCP1)
Galactokinase deficiency: isolated cataracts
Rate-limiting for glutathione synthesis; feedback-inhibited by GSH
GCK mutations: MODY2; HK1 deficiency: haemolytic anaemia
Rate-limiting TCA step; IDH1/2 neomorphic mutations produce 2-hydroxyglutarate in glioma/AML
PC deficiency: lactic acidosis, hypoglycaemia, neurological disease