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Phenylketonuria

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Phenylketonuria

  1. 1. Phenylketonuria (PKU) Ingrida Olendraitė Molecular biologist Vilnius university 2012
  2. 2. Outline• PKU – What is it?• PKU genetics• Symptoms and problems• Statistics• Treatment and pregnancy• Conclutions• Referances
  3. 3. AimTo understand what is PKU, why does it express and how can it be treated
  4. 4. PKU• Inherited metabolic disorder• A. Follings, 1934 PAH
  5. 5. Deficiency of:• PAHPKUPAH Structure.m4v.mp4• Tetrahydrobiopterin(BH4)
  6. 6. Autosomal recessive disorder
  7. 7. PAH gene• The PAH gene is located on chromosome 12, locus 22-24.1• PAH only allow a tolerance of 20 mg/kg/day• missense mutations and deletions
  8. 8. Symptoms
  9. 9. ProblemsToxic levels of Phehyperphenylalanemia
  10. 10. Statistics• 1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the USA• Turkey has the highest documented rate in the world, with 1 in 2,600 births• Approximately 1 in 35 individuals in Ireland carry one affected gene.• Finland and Japan have extremely low rates with fewer than one case of PKU in 100,000 births.
  11. 11. PKU by countryChina Finland Ireland Japan Korea Norway Turkey USA
  12. 12. TreatmentDiet for lifeNo: proteins, aspartameYes: vegetables, supplements
  13. 13. Pregnancy
  14. 14. Conclusions PKU is genetic disease of phenylalanine metabolism A low-Phe diet has been a remarkable success in preventing the devastating brain damage associated with untreated PKU Recent times have seen the introduction of a wide array of novel treatments currently in clinical useTaken together, the future of PKU treatment has never looked brighter
  15. 15. Referances• http://www.ncbi.nlm.nih.gov/• http://www.ebi.ac.uk/• http://www.health.state.mn.us/• http://www.rightdiagnosis.com/• http://emedicine.medscape.com/
  16. 16. Thank you!

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