Phenylketonuria Flashcards
What is Pheny Keronuria (PKU)?
An inherited disorder that leads to the accumulation of phenylalanine in the body
What type of genetic inheritance pattern is PKU associated with?
Autosomal recessive
How is PKU diagnosed?
Through newborn blood screening tests
What are the symptoms of PKU?
- Microcephaly
- Behavioral difficulties (tantrums)
- Seizures
- Tremors
- Intellectual disabilities
What happens to the severity of PKU symptoms with increased phenylalanine consumption?
The more phenylalanine consumed, the more severe the symptoms
What is the approximate incidence of PKU?
1 in 10,000 babies are born with PKU
What is the recommended dietary approach for women planning to become pregnant with PKU?
A strict protein diet
Why is it important for women with PKU to maintain low phenylalanine levels during pregnancy?
High phenylalanine levels can damage the baby
How often should blood tests be conducted for pregnant women with PKU?
Every 2 weeks
What is the treatment approach for managing PKU?
- Phenylalanine-free diet
- Amino acid supplements
- Avoidance of aspartame
Fill in the blank: PKU can lead to _______ if not managed properly.
intellectual disabilities
True or False: PKU is caused by a mutation in the hydrase gene.
False
What is a common screening test used for PKU?
Blood fingerprint test
What is the effect of phenylalanine on melanin?
Phenylalanine is involved in melanin production, affecting skin and eye color
What dietary items must be avoided in the treatment of PKU?
- High-protein foods
- Aspartame
