Phenylketonuria-Kevin+W

Phenylketonuria
 * Description: **

Phenylketonuria is a rare metabolic disorder that affects breaking down protein. It doesn’t properly break down phenylalanine. Too much Phenylalanine can cause mental retardation.


 * Inheritance: **

 Phenylketonuria is an autosomal recessive disorder. You need to inherit mutations in both copies of genes to develop disorder.


 * Punnett Square: **


 * Symptoms: **

At first, babies with Phenylketonuria have no symptoms. If left alone, it can cause severe brain damage. This can cause Epilepsy, behavior problems and the growth of the baby.


 * Diagnosis: **

Babies in the US are checked for Phenylketonuria. To be checked, a small blood sample is removed from the babies’ heel or arm and tested for high levels of phenylalanine. Phenylketonuria must be treated early.


 * Treatment: **

People with Phenylketonuria must eat a protein-free diet. For infants, they are given protein-free formula. They must avoid all foods with protein. They also must avoid artificial sweeteners with aspartame. Aspartame has phenylalanine in it.

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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Interesting Facts: **


 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Support Groups: **

<span style="color: black; font-family: Times,serif; font-size: 12pt;">National PKU ( <span style="color: black; font-family: Arial,sans-serif; font-size: 10pt;">Phenylketonuria) Alliance <span style="color: black; font-family: Arial,sans-serif; font-size: 10pt;">Unified to Support Metabolic Disorders <span style="color: black; font-family: Arial,sans-serif; font-size: 10pt;">Children’s PKU (Phenylketonuria) Network


 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Sources: **

<span style="color: black; font-family: Times,serif;">University of Utah <span style="color: black; font-family: Times,serif;">www.PKUnews.org


 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Pictures: **