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Phenylketonuria in Connecticut

Phenylketonuria in Connecticut. Derek Krewson Gunnar Cedergren Berechid Class 4. Testing Recommendations. Phenylketonuria (PKU) is a highly recommended genetic test by healthcare professionals, the United States Preventative Services Task Force (USPSTF) and pediatric doctors for newborns.

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Phenylketonuria in Connecticut

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  1. Phenylketonuria in Connecticut Derek Krewson Gunnar Cedergren Berechid Class 4

  2. Testing Recommendations • Phenylketonuria (PKU) is a highly recommended genetic test by healthcare professionals, the United States Preventative Services Task Force (USPSTF) and pediatric doctors for newborns. • Every year, about 250 children in the U.S. annually inherit PKU from both parents. • It is very important to test a newborn for PKU immediately (within 24 hours to 2 days after birth) followed by a follow up test 7-10 days after so if inherited, it can be diagnosed/treated early. (1) Krewson, Cedergren

  3. Background/Genetics • Mutated Gene: PAH (Phenylalanine hydroxylase) (7) • Located chromosome: 12 (bands 12q22-q24.1) • Type of mutation: gene mutation (specifically of PAH enzyme) in which there is a combination of missense, nonsense etc. of gene exons. (3) • Normal function of gene: process phenylalanine in proteins • Inheritance pattern: autosomal recessive (4) Cedergren

  4. Disease Characteristics • Symptoms: seizures, delayed physical development, behavioral problems, psychiatric disorders. • Side effects: musty odor of sweat/urine/bodily fluids, lighter skin/hair, eczema of skin • Age of Onset: immediate in early childhood (within weeks of birth) through life • PKU can result in mental retardation, brain damage, seizures and death if not treated. (5) Krewson

  5. Disease Treatment • There is no cure for Phenylketonuria, but there are many treatments options for those affected and much testing being done to help them lead a normal life. • PKU is best treated with a balanced diet low in the amino acid phenylalanine (Phe), which is very prevalent in proteins (such as those in meats, eggs, grains, etc.) • Phe-free formulas and supplements are also available, to help the affected get other necessary amino acids lacked in the low Phe foods. (6) Cedergren

  6. Disease Incidence and Disease Demographics • Incidence in population of U.S.- 1 in 10,000 people (0.01%) (6) • Current population of Connecticut- 3,518,288 (as of July, 2009) Calculations and Proportions: 1 x X= 352 (number of possible affected individuals in CT) = = 10,000 3,518,288 Incidence CT Population Cedergren

  7. Disease Testing and Cost • Cost of individual heel prick (Guthrie) test sheets- .50¢ to $1.50 (depending on hospitals’ PKU testing/treatment program). • Cost per confirmatory test- $1-$20 (depending on hospital PKU testing/treatment program) (9) • Birth rate for Sate of Connecticut- 41,660 (2007 estimate) • Calculations (Minimum possible amount and Maximum possible amount) • .50¢+$1 X 41,660= $62,490 (minimum possible amount) • $1.50+ $20 X41,660= $895,690 (maximum possible amount) Krewson

  8. Summary of Position on Genetic Testing for PKU • It is highly recommended that a newborn child be tested for PKU, for the testing (heel prick screening) is inexpensive and requires very little blood. (8) • The initial test takes very little time (heel prick within 24 hours of child birth) followed by the final results of test 7-10 days prior. • The testing is very accurate, and the projected testing costs for the state of Connecticut (hundred of thousands at most per year) may seem high, but the severity of the disease and the risk to newborns is well worth the money. Krewson, Cedergren

  9. Works Cited • "Phenylketonuria - Medline Plus Health." Bing. Web. 18 Nov. 2010 • "Phenylketonuria." Wikipedia, the Free Encyclopedia. Web. 18 Nov. 2010. • "The Genetics of PKU." Stony Brook Astronomy. Web. 18 Nov. 2010. • "Chromosome 12 (human)." Wikipedia, the Free Encyclopedia. Web. 18 Nov. 2010. • "What Is Phenylketonuria PKU?" PKU – Phenylketonuria – Join the PKU.com Community. Web. 18 Nov. 2010. • "Phenylketonuria - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 18 Nov. 2010. • "Mutation Analysis of PAH Gene." National Center for Biotechnology Information. Web. 18 Nov. 2010. • "Phenylketonuria (PKU) Test." CIGNA. Web. 19 Nov. 2010. • Smith, PhD, Harry A., and Kenneth C. Steiner, MS. "Survey of Departments of Health About PKU Screening Programs." Nation Center for Biotechnology Information. 1975. Web. 20 Nov. 2010. • Krewson (1,2,5,9) Cedergren (3,4,6,7,8)

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