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.
Copyright 1994-2018MedHelp.All rights reserved. MedHelp is a division of Vitals Consumer Services, LLC.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. MedHelp is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.