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بيلة فينيل كيتونية - خلل أيضي وراثي

Phenylketonuria or PKU

 
 
     
 
 

 
 
Other topics: Pediatrics
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Keywords

phenylketonuria, PKU, maternal PKU, Mendelian genetics, genetic disorders, rare diseases, genetic testing, newborn testing.

Overview *

Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe mental retardation. Many hospitals across the world test all babies for PKU.Make sure your hospital test your baby for PKU. This makes it easier to diagnose and treat the problem early.

The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food.

Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives.

 
 

In-Depth

Introduction | What is PKU?
Symptoms | Causes
PKU Test | Treatment
Summary

 
 

Multimedia

This health education tutorial explains what phenylketonuria is. It discusses its causes, symptoms, diagnosis, and treatment.

This button allows you to read and print an illustrated handout This button starts a multimedia program with interactive questions

This button allows you to read and print an illustrated handout

This button starts a multimedia program with interactive questions

This button allows you to read and print an illustrated handout.

This button starts a multimedia program with interactive questions.

   
This button starts an interactive quiz This button plays a self-running presentation

This button starts an interactive quiz

This button plays a self-running presentation

This button starts an interactive quiz.


This button plays a self-running presentation.


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.Selected topic overviews were adapted from Medlineplus, the National Library of Medicine *

 
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