Phenylketonuria (PKU)
Published on Feb 06, 2016
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PRESENTATION OUTLINE
Phenylketonuria (PKU)
By: David More
Discovery of PKU
- Dr. Asbjørn Følling discovered PKU, 1934
Is there a cure for PKU?
- There is no cure for PKU
- However, they need to follow a strict diet.
- They need to avoid high protein food
- milk, cheese, eggs, and chicken
What is PKU
- A birth defect that causes phenylalanine to build up in the body.
- Thats why they need to have a strict diet and not eat phenylalanine (high-protein food)
What happens to body
- Without treatment, phenylalanine would build up in your body and damage your nervous system and your brain
- High-Protein foods cause phenylalanine to build up in your body
Symptoms, how it is Diagnosed
- Symptoms- intellectual disabilities or mental retardation hyperactivity stunted growth eczema
- PKU is diagnosed through a blood test
PKU inheritance
- PKU is inherited in families in an autosomal recessive pattern.
- Autosomal recessive inheritance means that a person has two copies of the gene that is altered
PKU Common?
- "Experts estimate that PKU occurs in 1 of 10,000 to 15,000 newborns in the United States". How many people are affected by or at risk for phenylketonuria (PKU)? (n.d.). Retrieved May 12, 2015, from http://www.nichd.nih.gov/health/topics/pku/conditioninfo/Pages/risk.aspx
- Most kids are affected and if you have a kid with PKU, you have the highest chance for your next son or daughter to get it as well.
Pedigree Chart
Treatments
- Doctors make them go on the strict diet
- Another treatment is the large neutral amino acid supplementation which helps prevent PKU from entering your brain
Everyday life
- PKU defintetly effects an individuals everyday life
- They must follow their strict diet and must drink a special PKU formula (medical drink)
What did I learn?
- I learned that PKU is a serious genetic disorder that affects a individuals life everyday.
- It is very hard going by a specific diet and not being able to eat specific food.
