NEET PG Medical – 2018 – Question – 22
Tyrosinosis is caused due to deficiency of which enzyme?
a) Fumarylacetoacetate hydrolase.
b) p-hydroxy phenylpyruvate dehydrogenase.
c) Tyrosine transaminase.
d) Tyrosine ligase.
Show Answer
Correct Answer – A
Answer: A. Fumarylacetoacetate hydrolase
- Several metabolic disorders are associated with the tyrosine catabolic pathway. The probable metabolic defect in type I tyrosinemia (tyrosinosis) is at fumarylacetoacetate hydrolase.
- It is characterized by buildup of too much of the amino acid tyrosine in the blood and tissues due to an inability to metabolize it.
- The therapy employs a diet low in tyrosine and phenylalanine. Untreated acute and chronic tyrosinosis leads to death from liver failure.
