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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.
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Last updated Oct 8, 2019
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