Defective fumarylacetoacetate hydrolase enzyme is associated with: (A) Type 1 Tyrosinemia, (B) Type 2 Tyrosinemia, (C) Type 3 Tyrosinemia, (D) Type 4 Tyrosinemia
Answer is A. Defective fumarylacetoacetate hydrolase enzyme is associated with type I tyrosinemia (tyrosinosis). it is the most common type of tyrosinemia. Therapy employs a diet low in tyrosine and phenylalanine and nitisinone (NTBC). Reference: Harpers illustrated biochemistry 30th edition