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Phenylketonuria

A 50-year-old member asked:
Dr. James Ferguson
45 years experience in Pediatrics
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 d ... Read More

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A 37-year-old member asked:
Dr. James Ferguson
45 years experience in Pediatrics
Very: Untreated traditional PKU will eventually lead to brain damage, seizures and profound limitations in a persons life. Recognition and early treatment d ... Read More
A 54-year-old member asked:
Dr. Ed Friedlander
43 years experience in Pathology
Genetic disease: Inability to metabolize phenylalanine properly results in build up of toxic by-products. Patients need perfect compliance with a carefully-planned die ... Read More
A 43-year-old member asked:
Dr. Jay Park
Dr. Jay Park answered
49 years experience in Pediatrics
Yes: Both parents must be carriers.
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