answersLogoWhite

0

What causes pku?

Updated: 8/10/2023
User Avatar

Wiki User

9y ago

Best Answer

PKU or phenylketonuria is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase or PAH. This enzyme is needed to convert the amino acid phenylalanine into other forms that the body uses and needs. When this gene is mutated the body can't break down foods that are high in protein such as milk, cheese, nuts, or meat.

User Avatar

Wiki User

9y ago
This answer is:
User Avatar
More answers
User Avatar

Wiki User

15y ago

gene 12q 22-24

defect in phenylalanine hydroxylase

leads to accumulation of toxic phenylpyruvic acid

This answer is:
User Avatar

User Avatar

Wiki User

12y ago

inability to break down the amino acid phenylalanine.

This answer is:
User Avatar

Add your answer:

Earn +20 pts
Q: What causes pku?
Write your answer...
Submit
Still have questions?
magnify glass
imp