Phenylketonuria By John Fenlon March of Dimes 2009

Statistical facts! 1/8 babies have birth defects 1/33 babies are born with genetic defects 1/3500 babies are born with metabolic defects

Phenylketonuria (PKU)‏ A genetic disorder that affects the enzyme Phenylalanine hydroxylase (PAH)‏  Cannot break down amino acid phenylalanine Left untreated phenylalanine accumulates and cannot be turned into waste This leads to problems with brain development, mental retardation, seizures Must be detected as early as possible

Phenylketonuria (PKU)‏ Autosomal recessive genetic disorder

How to detect it? All babies are screened hours after birth  Must be known before consumption of food Grithe test or HPLC test  Grithe – cut the baby's heel and get blood samples  HPLC – High-Performance Liquid Chromatography, test urine

Treatment No cure Must eat a diet low in phenylalanine for his or her entire life  Cannot eat: Meat, chicken, fish, nuts, and cheese, diet foods/sodas (foods high in protein)‏  Low intake: Potatoes, corn, pasta, corn (foods high in starch)‏ BioMarin Pharmaceutical made a tablet (Tetrahydrobiopterin) that keeps phenylalanine levels low Gene therapy – Functional PAH is injected into a patient through a vector (ie virus) to infect cells in order for them to be able to create their own

Food Food choice is limited Usually all food must be made at home However, there are many places to find recipes to overcome this

The End