Phenylketonuria test 2 Flashcards

1
Q

What is PKU?

A

deficincy in liver enzymes causing an inappopriate use of amino acids and protiens

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2
Q

How is PKU tested?

A

state-mandated: test occurs 24-36 hours after birth

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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)
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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

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