Phenylketonuria

1. Phenylketonuria Connecticut By: Christie Iorfino and Bianca LeBlanc Period 6

2. Testing Recommendation • We recommend testing for Phenylketonuria at birth. • It is very beneficial of testing at birth due to the intellectual disabilities that occur because of Phenylketonuria. Phenylketonuria is not costly to test for and can be easily treated with a diet if tested early. Also, it’s important to test early because babies born with PKU appear normal for the first few months, you would never know.

3. Background & Genetics of the Disease • PAH gene: phenylalanine hydroxylase • Chromosome 12  • Substitution/Missense, Deletion • PAH provides instructions to make enzyme • Responsible for processing the amino acid phenylalanine • Converts amino acid phenylalanine to tyrosine • PAH enzyme doesn’t break down phenylalanine • Phenylalanine reaches to high levels in the blood • Autosomal recessive  LeBlanc http://ghr.nlm.nih.gov/gene/PAH#normalfunction http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html

5. Disease Characteristics • Seizures • Delayed Development • Behavioral Problems • Mental Retardation • Infants that have PKU appear normal at birth • The age of onset is when the infant is a few months old • PKU does not result in death Iorfino http://www.medicinenet.com/phenylketonuria/article.htm http://www.webmd.com/parenting/baby/tc/phenylketonuria-pku-symptoms http://www.medhelp.org/lib/pku.htm

6. Disease Treatment • Reducing the amount of protein in the diet • Sapropterin (Kuvan) medicine may help • Less costly to test right away • No actual cure but can be effectively managed • Babies are given special formulas Iorfino http://www.pku.com/What-is-PKU/pku-facts-information.php#b8 http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm

7. Disease Incidence and Demographics • CT population: 3,405,565 • Incidence in general population: 1 in 15,000 • 1/15,000 = x/3,405,565 • X= 227 people in CT affected with disease • Occurs most in Caucasians • Less in African Americans, Asians, Japanese • Caucasians • one in every 10,000 • 2,780,355 Caucasians in CT • 1/10,000 = x/2,780,355 • X= 278 Caucasians affected in CT LeBlanc http://www.intelihealth.com/IH/ihtIH/c/32193/48811.html http://www.infoplease.com/us/census/data/connecticut/demographic.html

8. Testing and Cost • Not DNA test, tested to see if baby has enzyme needed to use phenylalanine • Blood sample (Heel Stick) • taken from baby’s heel • early as 24 hours after birth • follow up at 7-10 days old • if anything leaves a little bruise • Urine test • older than 6 weeks • test strip/fluid is put on diaper • less accurate

9. Testing & Cost Continued • Less accurate • premature baby • less than 5lbs • drink milk less than 24 hours • not eating • antibiotics • Birthrate: 41,660 • Cost: $1.25 $1.25 x 41,660 = $52,075  cost yearly to test every newborn http://www.webmd.com/parenting/baby/phenylketonuria-pku-test http://www.statehealthfacts.org/profileind.jsp?ind=34&cat=2&rgn=8

10. Position on Genetic Testing for PKU Newborns should be tested for PKU because if you get tested early enough you can effectively manage PKU and maintain a normal life by following the low protein diet. The testing only costs $1.25 per baby and won’t cause any harm to the newborn. The available tests consist of the heel prick and urine test; the most harm that could come from this would be a small bruise on the baby’s heel. Without treatment for PKU a baby will begin to experience seizures and intellectual disabilities at an extremely early age. If you have a way of keeping a child a productive member of society that won’t be looked down upon or treated differently, you need to take advantage of that. Testing a newborn for PKU is in the best interest of the child, and they deserve to be helped. Two hundred and twenty-seven people out of about 3 million might not seem like a lot to you, but this is just in one state out of 50, and these are human lives at risk. All newborns should have the right to live as normally as possible, and by testing for PKU, an affected child can be treated. Lastly, if you’re looking at testing as a money situation, it’s more costly for everyone to leave a baby affected with PKU untreated than it is to test every newborn.

11. Works Cited Christie Iorfino 1. "Phenylketonuria: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. Web. 20 Nov. 2010. <http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm>.  2. "PHENYLKETONURIA (PKU)." Medical Information & Answers to Medical Questions - MedHelp. Web. 20 Nov. 2010. <http://www.medhelp.org/lib/pku.htm>.  3. "Phenylketonuria (PKU) Signs, Symptoms, Causes, and Prognosis on MedicineNet.com." Web. 20 Nov. 2010. <http://www.medicinenet.com/phenylketonuria/article.htm>.  4. "Phenylketonuria (PKU)-Symptoms." WebMD - Better Information. Better Health. Web. 20 Nov. 2010. <http://www.webmd.com/parenting/baby/tc/phenylketonuria-pku-symptoms>.  5. "PKU Facts and Information from PKU.com." PKU –Phenylketonuria –Join the PKU.com Community. Web. 20 Nov. 2010. <http://www.pku.com/What-is-PKU/pku-facts-information.php#b8>.  Bianca LeBlanc 1. "Phenylketonuria - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 7 Nov. 2010. Web. 16 Nov. 2010. <http://ghr.nlm.nih.gov/condition=phenylketonuria>. 2. "Phenylketonuria (PKU) Test." WebMD - Better Information. Better Health. 8 Feb. 2010. Web. 17 Nov. 2010. <http://www.webmd.com/parenting/baby/phenylketonuria-pku-test>. 3. "Phenylketonuria Genetic Testing Basics." InteliHealth:. 27 June 2006. Web. 18 Nov. 2010. <http://www.intelihealth.com/IH/ihtIH/c/32193/48811.html>. 4. "Phenylketonuria." Genes and Disease. 1998. Web. 19 Nov. 2010. <http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html>. 5. "Number of Births - Connecticut." Kaiser State Health Facts. Web. 18 Nov. 2010. <http://www.statehealthfacts.org/profileind.jsp?ind=34&cat=2&rgn=8>.