PKU.com Community Discussion Forum New to PKU.com mild or classical ??? Reply To: mild or classical ???

#6185
Avatar of Nick
arkham
Member

The difference between the 3 types of PKU are as follows (information I’ve gotten from a number of sites): classic PKU (cpku) – results from 2 severe mutations in the PAH gene and untreated phe levels tend to be above 20. ; Mild/moderate/atypical/variant PKU – results from one mild and one severe mutation in the gene and untreated phe levels tend to be between 15 and 20. ; hyperphenylalaninemia (hyperphe) – results from 2 mild mutations in the PAH gene and untreated phe levels tend to be below 15. The recommended phe level for all, at least during childhood, is 2-6. In adulthood, men and women who aren’t planning to be pregnant (and aren’t at risk of becoming pregnant) may be allowed higher levels, depending on their tolerance.

Quick Poll
Which of the following best describes you?
Parent/caregiver of an infant with PKU
Parent/caregiver of a child with PKU
Teenager with PKU
Adult with PKU
Grandparent of a child with PKU
Know someone with PKU
Healthcare professional