EC 4.99.1.1 FECH 1 reactions
Erythropoietic protoporphyria; also inhibited by lead
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.
EC 6.3.5.3 PFAS 1 reactions
EC 3.1.3.11 FBP1 1 reactions
FBPase deficiency: fasting hypoglycaemia, lactic acidosis, ketosis
EC 4.1.2.13 ALDOA 1 reactions
EC 4.2.1.2 FH 1 reactions
FH mutations: hereditary leiomyomatosis and renal cell carcinoma
EC 3.7.1.2 FAH 1 reactions
Tyrosinaemia type I: liver failure, renal Fanconi, cabbage odour; treated with nitisinone
EC 3.2.1.46 GALC 1 reactions
Krabbe disease
EC 2.7.1.6 GALK1 1 reactions
Galactokinase deficiency: isolated cataracts
EC 5.1.3.3 GALM 1 reactions
EC 2.7.7.12 GALT 1 reactions
Classic galactosaemia: cataracts, jaundice, E. coli sepsis, intellectual disability
EC 4.1.1.90 GGCX 1 reactions
Carboxylates factors II, VII, IX, X, protein C, S, Z
EC 6.3.2.2 GCLC 1 reactions
Rate-limiting for glutathione synthesis; feedback-inhibited by GSH
EC 2.5.1.1 FDPS 1 reactions
EC 3.2.1.45 GBA 1 reactions
Gaucher disease; GBA variants also raise Parkinson disease risk
EC 1.1.1.49 G6PD 1 reactions
G6PD deficiency: oxidative haemolysis, Heinz bodies, bite cells, favism
EC 2.4.1.80 UGCG 1 reactions
EC 4.1.1.15 GAD1/GAD2 1 reactions
B6-dependent; anti-GAD antibodies in stiff-person syndrome and T1DM
EC 1.4.1.3 GLUD1 1 reactions
Activating mutations: hyperinsulinism-hyperammonaemia syndrome
SLC25A13 / SLC25A12 1 reactions
EC 3.5.1.2 GLS 1 reactions