PhenylketonuriaBy: Alex Gandhi

andAthavan Balendran

Phenylketonuria is a genetic disorder in which the Phenylalanine Hydroxylase gene, commonly known as the PAH or PKU gene on chromosome 12, becomes mutated. This gene makes an enzyme that controls the amino acid, Phenylalanine. This mutation results in too much of the amino acid.

What is the cause of Phenylketonuria?

Phenylketonuria is inherited through birth. The disorder is inherited through an autosomal recessive pattern.

How do you get Phenylketonuria?

Some symptoms of Phenylketonuria include: Mental Retardation Stunted Growth Eczema Small Head Size Seizures These symptoms will stick with the patient

for their entire lives if the disorder is not properly taken care of. ADHD is also common in patients with Phenylketonuria.

What are the symptoms?

Proper treatment for Phenylketonuria is particularly difficult to most patients and is acquired over time. The goal is to maintain appropriate amounts of Phenylalanine in the blood. To do this the patient is fed high contents of wheat such as cereal or bread until regular Phenylalanine levels are reached.

How do you treat Phenylketonuria?

Phenylketonuria roughly occurs in 1 in 10,000 to 15,000 births.

Phenylketonuria can be diagnosed with just a blood test.

Pictures and Facts

For more information go to http://learn.genetics.utah.edu or http://www.drugs.com/enc/phenylketonuria.html

Want to learn more?

Information Staff, Mayo Clinic. "Phenylketonuria: Symptoms - MayoClinic.com." Mayo Clinic.

October, 20, 2009. Web. 13 Apr. 2011. <http://www.mayoclinic.com/health/phenylketonuria/DS00514/DSECTION=symptoms>.

"Phenylketonuria - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 13 Apr. 2011. <http://ghr.nlm.nih.gov/condition/phenylketonuria>.

"Phenylketonuria Symptoms, Causes, Treatment - How Common Is Phenylketonuria on MedicineNet." Web. 17 Apr. 2011. <http://www.medicinenet.com/phenylketonuria/page2.htm>.

"PHENYLKETONURIA (PKU)." Health Community, Health Information, Medical Questions, and Medical Apps - MedHelp. Web. 17 Apr. 2011.

<http://www.medhelp.org/lib/pku.htm>. "Phenylketonuria - PubMed Health." Phenylketonuria. A.D.A.M., Inc., 2011. Web.

17 Apr. 2011. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002150/>.

Pictures www.health.com http://learn.genetics.utah.edu/content/disorders/whataregd/pku/

Sources

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