PKU-phenylketonuria
Allison Branam
What is PKU?
An inherited disorder that causes you to lack the enzyme needed to break down the amino acid, phenylalanine. Without the enzyme, eating something high in protein can cause a buildup to develop in the blood.
Causes & Complications
- caused by a defective gene that lacks the enzyme needed to break down phenylalanine.
- If untreated can lead to:
2. intellectual disability
3. abnormally small head
4. behavioral, social, or emotional problems
5. health & development problems
6. seizures
Testing/Treatment
- newborn blood tests detect most cases
- doctor takes blood from the baby's heel or bend in the arm
- required in the US
- lifetime with a diet of limited protein
- take a protein supplement
- avoid food such as: milk, eggs, cheese, nuts, soybeans, beans, chicken, beef, pork, fish
Prevention/ Life Outlook
- baby will only inherit PKU if both parents have the defective gene
- if a women is considering having a baby stick to a low phenylalanine diet before pregnancy
- talk to a genetic counseling doctor to learn how its passed through the family
- won't lessen life span
Work Cited
- "Phenylketonuria (PKU)." - Mayo Clinic. Web. 14 Oct. 2015.
Wheeler, Patricia. "Newborn Screening Tests." KidsHealth - the Web's Most Visited Site about Children's Health. The Nemours Foundation, 1 Sept. 2012. Web. 14 Oct. 2015.