PKU (Phenylketonuria)
Ramon Macias
You should see a Doctor if you have the following symptoms:
- Skin rashes
- Small head size
- Slow growth
- Seizures or shaking
- Social problems or behavioral
- Blue eyes and fair skin
- Body odor
Babies in Danger
This disease can only be inherited by the parents of the baby who has it. In order for a baby to have PKU, BOTH parents must have a gene to change for PKU. If only one parent has then the baby has a gene to change for PKU, but DOES NOT have PKU. About 1 in 10,000 to 15,000 does a baby inherit PKU in the U.S. per year.
Phenylalanine
- Cause by mutations In the PAH (Phenylalanine hydroxylase) gene on the long arm of chromosome 12
- Around 500 mutations In the PAH gene have been identified in people with PKU (most of these mutations change single amino acid on PAH)
- PAH is responsible For the conversion of phenylalanine to another amino acid called Tyrosine.
Exams/Tests
- PKU can be easily detected in a blood test
- The U.S. requires A PKU screening test for newborn screening panel
Treatments
- Treatments include strict diet With limited protein
- People who have PKU need to avoid food with high-protein Including:
- Milk and cheese
- Eggs and nuts
- Beans(including soybeans)
- Chicken, beef, and pork
- Fish and peas
- The U.S. Food and Drug Administration (FDA) has approved the drug Sapropterin Dihydrochloride (Kuvan) for the treatment of PKU
Sources
- "Learning About Phenylketonuria." Learning About Phenylketonuria. N.p., 14 Apr. 2014. Web. 09 Mar. 2015. <http://www.genome.gov/25020037>.
- "Phenylketonuria: MedlinePlus." U.S National Library of Medicine. U.S. National Library of Medicine, 2 Oct. 2014. Web. 17 Mar. 2015. <http://www.nlm.nih.gov/medlineplus/phenylketonuria.html>.
- Staff, Mayo Clinic. "Phenylketonuria (PKU)." Treatments and Drugs. N.p., 26 Nov. 2014. Web. 17 Mar. 2015. <http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/treatment/con-20026275>.