PKU Flashcards
1
Q
What type of mutation is Phenylketonuria?
A
Autosomal Recessive
2
Q
What gene mutation in Phenylalanine Hydroxylase (PAH) gene?
A
Chromosome 12
3
Q
Phenylalanine also known as?
A
Neurotoxic
4
Q
How many months will affect the mutation of Phenylketonuria?
A
6 months of age
5
Q
What are the treatments for Phenylketonuria?
A
• Complete avoidance of food containing high amounts of phenylalanine
• Calculated intake of low protein/phenylalanine natural blood
• Sufficient intake of fats and carbohydrates
6
Q
What is the manifestation of Phenylketonuria?
A
• Vomiting
• Hyperactivity
• Seizures and Hypertonia
• Musty or mousy uring color
• Light hair and skin color Seborrheic or Eczematoid rash
• Mental retardation
