Phenylketonuria

on

  • 2,300 views

 

Statistics

Views

Total Views
2,300
Slideshare-icon Views on SlideShare
2,300
Embed Views
0

Actions

Likes
1
Downloads
77
Comments
0

0 Embeds 0

No embeds

Accessibility

Categories

Upload Details

Uploaded via as Microsoft PowerPoint

Usage Rights

© All Rights Reserved

Report content

Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
  • Full Name Full Name Comment goes here.
    Are you sure you want to
    Your message goes here
    Processing…
Post Comment
Edit your comment

    Phenylketonuria Phenylketonuria Presentation Transcript

    • Phenylketonuria (PKU) Ingrida Olendraitė Molecular biologist Vilnius university 2012
    • Outline• PKU – What is it?• PKU genetics• Symptoms and problems• Statistics• Treatment and pregnancy• Conclutions• Referances
    • AimTo understand what is PKU, why does it express and how can it be treated
    • PKU• Inherited metabolic disorder• A. Follings, 1934 PAH
    • Deficiency of:• PAHPKUPAH Structure.m4v.mp4• Tetrahydrobiopterin(BH4)
    • Autosomal recessive disorder
    • 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
    • Symptoms
    • ProblemsToxic levels of Phehyperphenylalanemia
    • 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.
    • PKU by countryChina Finland Ireland Japan Korea Norway Turkey USA
    • TreatmentDiet for lifeNo: proteins, aspartameYes: vegetables, supplements
    • Pregnancy
    • 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
    • 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/
    • Thank you!