Phenylketonuria, commonly called PKU, is a genetic condition in which the body can't process one of the building blocks of protein called phenylalanine (Phe). Our body can't make Phe, therefore, we must obtain it through food. Phe is essential in the production of another building block called tyrosine (Tyr).
If left untreated, PKU can damage the brain and cause severe mental retardation. The signs and symptoms of PKU vary from mild to severe.
The most severe type of PKU is called classic PKU. If untreated, symptoms may include:
- developmental delay/mental retardation
- musty (or mousy) bodily odor
- behavioral problems
- psychiatric disorders
- fairer skin and hair than other non-affected family members
Less severe types of PKU are called variant PKU and non-PKU hyperphenylalaninemia, and have a smaller risk of brain damage.
You can find more information on PKU at AccessDNA.
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