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A 23-year-old female asked:

What is pku? & could adults wind up getting that ? or is that something only found in newborns ?

4 doctor answers7 doctors weighed in
Dr. William Singer
Pediatric Neurology 51 years experience
Error of metabolism: Phenylketonurea is an inborn error of metabolism. Infants are born with it. You cannot get it as an adult.
Dr. Richard Roberts
Pediatrics 46 years experience
Only infants: PKU is one of the few inborn errors of metabolism which is now detected by newborn screening. It is an autosomal recessive disorder, meaning that both parents must be carriers of this rare mutation which is responsible for getting rid of excess phenylalanine in our body's metabolism. If untreated, it will cause severe brain damage. A low phenylalanine diet allows normal brain development.
Dr. Susan Hoffman
Pediatrics 28 years experience
PKU: Phenylketonuria is a condition in which your body can’t break down an amino acid, phenylalanine. It is inherited if both parents have the gene. We test newborns because if it is detected early, the effects can be avoided. If untreated, it causes seizures, mental retardation, devastating. It is not something acquired in adulthood. If healthy and normal intelligence, you do not have it. Be well!
Dr. Karen Glover
Family Medicine 23 years experience
Phenylketonuria: PKU is Phenylketonuria, which is a genetic metabolic deficiency disorder where there is a missing genetic code on a gene. The individual cannot breakdown the amino acid phenylalanine, which is found in proteins. The substance builds up in the body and can be toxic, especially to the brain. It is screened for at birth. It is not a disease that you can acquire as an adult.

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Last updated Dec 4, 2019

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