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.
MCAD deficiency: hypoketotic hypoglycaemia, dicarboxylic aciduria, SIDS-like presentation
Requires the same five cofactors as PDC; thiamine-sensitive
Maple syrup urine disease: burnt-sugar urine, ketoacidosis; thiamine-responsive variants
Activating mutations: hyperinsulinism-hyperammonaemia syndrome
Regenerates NAD+ anaerobically; LDHA deficiency causes exercise-induced myoglobinuria
Rate-limiting TCA step; IDH1/2 neomorphic mutations produce 2-hydroxyglutarate in glioma/AML
MCAD deficiency: hypoketotic hypoglycaemia, dicarboxylic aciduria, SIDS-like presentation
Regenerates NAD+ anaerobically; LDHA deficiency causes exercise-induced myoglobinuria
Regenerates NAD+ anaerobically; LDHA deficiency causes exercise-induced myoglobinuria