Phenylketonuria test 2 Flashcards
1
Q
What is PKU?
A
deficincy in liver enzymes causing an inappopriate use of amino acids and protiens
2
Q
How is PKU tested?
A
state-mandated: test occurs 24-36 hours after birth
3
Q
What are the s/s of PKU
A
no s/s @ Birth if untreated, may cause: - Developmental delays - Small head - Have a musty smell - Eczema - Intellectual disabilities - Seizures - sweat urine (maple syrup disease)
4
Q
What is the treatment for PKU?
A
o Women who test positive for PKU when they are pregnant need to follow a diet of no protein
May lead to miscarriage if not followed
Physical abnormalities include smaller heads
o CANNOT have proteins, dairy, meat, diet soda (aspartame), dry beans, nuts, eggs, corn, bread, French fries
With cereal, fruits, vegetables in moderation
o Has maple syrup urine disease
Sweat urine