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
ProblemsToxic levels of Phehyperphenylalanemia
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
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