Which enzyme's deficiency is associated with the development of tyrosinemia type 1, a condition characterized by elevated levels of tyrosine in the blood?

A Fumarylacetoacetate hydrolase ✓
B Tyrosine aminotransferase
C Phenylalanine hydroxylase
D Homogentisate 1,2-dioxygenase

Explanation

Tyrosinemia type 1 is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase, which is involved in the breakdown of tyrosine. This deficiency leads to the accumulation of toxic metabolites.

Source

Genetic Home Reference
Enzymes in Disease Genetics Amino Acid Disorders Medium MEDICAL Confidence: high