What are the symptom of the disorder?
The symptoms of PKU are :
- musty odor to the skin, hair, and urine
- vomiting
- diarrhea
- irritability
- sensitivity to light
In older children :
- screaming episodes
- head banging
- repetitive rocking
- arm biting
- intellectual disabilities
- skin disorders
- lighter hair and skin than other family members
How is the disorder inherited?
- PKU isn't a sex-liked disorder, it is inherited from both parents who have the recessive trait. The PAH gene has a mutation and it is carried on the long arm of chromosome 12.
When does PKU become evident?
- Within the first month after birth PKU is evident. Symptoms such as seizures become severe when untreated up to 8 weeks old. Sadly, Pku can't be detected before birth.
Can the parents of a PKU child be tested to see if they are carriers of the disease?
- Yes, the parents can be genetically tested through a blood test that looks for changes in the pair of genes that cause PKU.
Can the environment be altered to affect the expression of the disorder?
- Food-wise, yes, it can be changed so PKU is less severe. Treatment by creating a low phenylalanine diet as soon as possible can prevent mental retardation. This means avoiding or strictly limiting:
- milk and all dairy products including cheese, yogurt, ice cream
- regular formula
- meat and poultry
- fish
- eggs
- nuts and peanut butter
- dried beans
- regular flour
- COMPLETELY avoiding the sugar substitute aspartame
FOUNDATION FOR PKU:
SOURCES:
http://children.webmd.com/tc/phenylketonuria-pku-symptoms
http://www.growingkids.co.uk/AboutPKU.html
QUIZ TIME!!!!
1) What is another name for Phenylketonuria (PKU)?
2)Name four things a person with PKU should avoid?
3) What should a PKU person completely avoid?
4) What causes PKU?
5) At what age can you tell a child has PKU?
