U.S. doctors online nowAsk doctors free
A 42-year-old member asked:

I want to know what's the genetic disorder called pku?

1 doctor answer1 doctor weighed in
Dr. James Ferguson
Pediatrics 47 years experience
Phenylalanine (Phe): Your genes pass the code to your cells for making enzymes it needs to utilize dietary substances. Food must be broken down to usable parts ; recycled in each cell to become the building blocks of cell walls, muscle, etc.In pku a kid inherits a bad code from both asymptomatic parents ; doesn't make the phe enzyme. A buildup of phe becomes toxic, can cause brain damage and phe spills into the urine.
Created for people with ongoing healthcare needs but benefits everyone.
Last updated Oct 8, 2019
Connect with a U.S. board-certified doctor by text or video anytime, anywhere.
24/7 visits - just $39!
50% off with $15/month membership


Content on HealthTap (including answers) should not be used for medical advice, diagnosis, or treatment, and interactions on HealthTap do not create a doctor-patient relationship. Never disregard or delay professional medical advice in person because of anything on HealthTap. Call your doctor or 911 if you think you may have a medical emergency.