A member asked:

What is phenylketonuria (pku)?

A doctor has provided 1 answer

Gene mutation: When someone inherits a defective gene from two unaffected parents they can have pku. They can't make the enzyme phenyalanine (phe) hydroxylase.The dietary protein phe cannot be broken down & the phe level raises in the blood & urine. Untreated it will cause brain damage, short stature & seizures. Treatment includes avoiding phe containing foods, meds & regular followup.

Answered 5/20/2016

3.7k views

Thank

Related Questions

A member asked:

How can I lose weight with have pku (phenylketonuria) ?

A doctor has provided 1 answer

A member asked:

Can phenylketonuria (pku) be a chromosomal mutation?

A doctor has provided 1 answer

A member asked:

I want to know what's the genetics for phenylketonuria (pku)?

A doctor has provided 1 answer