PKU Part 2

Question 1

Where do phenylalanine and phenylpyruvate accumulate?

Answer 1

In the blood

Question 2

Autosomal recessive

Answer 2

Not a sex chromosome

Question 3

Mutations can be ____ for PAH

Answer 3

Structural gene

Question 4

What can fetal PKU affects?

Answer 4

The fetuses of women with untreated PKU

Question 5

What is transamination?

Answer 5

Moving amino groups from amino acids to form new amino acids 

Question 6

What is PKU a result of?

Answer 6

A defect in the catabolism of PAH and is linked to the catabolism of dietary proteins

Question 7

______ is an intermediate of glucose

Answer 7

Pyruvate

Question 8

What are neurons heavily dependent on?

Answer 8

ATP production for development and function

Question 9

What does the presence of phenylpyruvate in PKU patience affect in regards of pyruvate transport, and ATP generation?

Answer 9

Pyruvate transport in the mitochondria and ATP generation is reduced

Question 10

Why must pyruvate be transported into the mitochondria?

Answer 10

To be metabolized in the production of energy to form ATP