Enzymes May Be Catalytically Defective Due to Genetic Mutation
Albinism : Tyrosine 3-monooxygenase
Alkaptonuria : Homogentisate 1,2-dioxygenase
Galactosemia : Galactose 1-phosphate uridylyl transferase
Homocystinuria : Cystathionine b-synthase
Phenylketonuria : Phenylalanine 4-monooxygenase
Tay-Sachs disease : Hexosaminidase A