Phenylketonuria
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Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), which is responsible for breaking down the amino acid phenylalanine. Without proper treatment, toxic levels of phenylalanine can accumulate in the body and cause permanent brain damage. The document discusses PKU genetics, symptoms, statistics on rates around the world, treatment through a phenylalanine-restricted diet, and implications for pregnancy. Recent advances have improved treatment and outcomes for those with PKU.
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Phenylketonuria
- 1. Phenylketonuria (PKU) Ingrida Olendraitė Molecular biologist Vilnius university 2012
- 2. Outline • PKU –What is it? • PKU genetics • Symptoms and problems • Statistics • Treatment and pregnancy • Conclutions • Referances
- 3. Aim To understand what is PKU, why does it express and how can it be treated
- 4. PKU • Inherited metabolic disorder • A. Follings, 1934 PAH
- 5. Deficiency of: • PAH PKUPAH Structure.m4v.mp4 • Tetrahydrobiopterin (BH4)
- 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. Symptoms
- 9. Problems Toxic levels of Phehyperphenylalanemia
- 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. PKU by country China Finland Ireland Japan Korea Norway Turkey USA
- 12. Treatment Diet for life No: proteins, aspartame Yes: vegetables, supplements
- 13. Pregnancy
- 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 use Taken together, the future of PKU treatment has never looked brighter
- 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. Thank you!
Editor's Notes
- Phenylketonuria (PKU), the most common an inborn error of amino acid metabolism, results from an impaired ability to metabolize the essential amino acid phenylalanine PKU is condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine and transform it to tyrosine.
- Phenylketonuria (PKU), the most common an inborn error of amino acid metabolism, results from an impaired ability to metabolize the essential amino acid phenylalanine PKU is condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine and transform it to tyrosine.
- phenylketonuria can be caused by a deficiency of either phenylalanine hydroxylase or a deficiency of the tetrahydrobiopterin (BH4), the cofactor for the PHENYLKETONURIA reaction
- The PAH gene encoding for PheOH is located on the long arm of chromosome 12 at locus 22-24.1. The gene spanning 90-100kb contains 13 exons The two largest categories of PAH mutations causing PKU are missense mutations, which account for 62.6% of all known mutations, and deletions, which account for another 13%. mutations within PheOH only allow a tolerance of 20 mg/kg/day of Phe in the diet. However, in children with milder forms of PKU or less limiting mutations on PheOH activity up to 50 mg/kg/day of Phe can be tolerated.
- This defect results in toxic hyperphenylalanemia from a breakdown in the hydroxylation of phenylalanine (Phe) to tyrosine, the first step in the catabolic metabolism of Phe. This defect causes the symptoms of PKU, which include profound mental retardation and progressive motor dysfunction, which arise from gross imbalances in central nervous system metabolism
- If a women with pku is pregnant - closely follow a strick low=phenylalanine diet both before bevoming pregnant and throughout the pregnancy, dinvr nuilf up of this substance will damage the developing baby even if the child has not inherited the defective gene