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PKU

PKU. By Elias Brent. What is PKU?. Pku is a inheritated disorder. Increases the levels of Phenylalanine (Witch is found in proteins and artificial sweeteners) Causes mental retardation Common in infants Allele is recessive. What problems occur. Newborns with lighter skin Brain damage

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PKU

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  1. PKU By Elias Brent

  2. What is PKU? • Pku is a inheritated disorder. • Increases the levels of Phenylalanine (Witch is found in proteins and artificial sweeteners) • Causes mental retardation • Common in infants • Allele is recessive

  3. What problems occur • Newborns with lighter skin • Brain damage • Slow growth • Small head size (microcephaly) • Pregnancy loss

  4. What elements are present • Parents have to be carriers of Pp Pp • On 12th Chromosome • PKU is a recessive allele which means it has to have two lowercase genotypes to be positive in a patient (refer to pennant square)

  5. Pedigree of Maternal PKU

  6. Statistics & diagnose • Occurs in 1 in 10,000-15,000 newborns • Usually diagnosed in infants • treated with special diet with low amounts of Phenylalanine • Life is lived with damaged brain and movement skills if precautions aren't taken

  7. Possible Genotypes

  8. Relative Information • Diagnosed: increased levels of Phenylalanine • Treatment: low Phenylalanine diet • Symptoms: Brain damage (from damaged nerves in brain), Seizers, Growth & Development problems, and Movement problems. • Life expectance: is normal if treated.

  9. Everyday Life • Everyday life for a PKU patient can and usually is normal with little differences. • Lighter skin & hair color than family members • Must be on low phenylalanine diet • Patient helpful link http://archives.cnn.comand search PKU.

  10. Single Gene or Polygenic Disorders • PKU has incomplete dominance over the other allele • PKU is an autosomal recessive (polygenic) disorder • PKU is caused by substitution when one allele is substituted for another

  11. Resources sited • http://www.marchofdimes.com • Genetic and rare conditions site www.Kumc.edc/gec/support • Genetic information and patient services • www.icomm.ca/geneinfo • PKU Patients http://www.michigan-pku.org

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