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A 44-year-old member asked:

What is phenylketonuria (pku)?

1 doctor answer3 doctors weighed in
Dr. James Ferguson
Pediatrics 46 years experience
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.

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A 39-year-old member asked:

What is pku?

2 doctor answers5 doctors weighed in
Dr. Gurmukh Singh
Pathology 49 years experience
Phenylketonuria: It is an inherited metabolic disorder which if left untreated causes mental retardation in affected children. All states have programs to screen newborns for pku as it can be treated with a diet low in phenylalanine, an amino acid.

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Last updated May 20, 2016
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