1. Phenylketonuria a) Metabolic block b) Autosomal recessive c) Pleiotropism d) Variable expressivity e) Effective treatment f) Screening

2. Symptoms:(Untreated) 2) Neurological 3) Motoric 1) Anatomical 4) Behavioral Microcephaly (small head) Hypopigmentation (fair eyes, skin, hair) Seizures EEG Abnormalities Hypertonicity (“posturing”) Poor coordination Hyperactivity Attention Problems Lower IQ

5. Tissue ProteinsDiet PhenylalanineTyrosine Phenyalanine hydroxylase (PAH)

6. Tissue ProteinsDiet PhenylalanineTyrosineDOPA Melanin DA (dopamine) NE (norepinephrine) p-hydroxy- phenlypyruvate homogentisic acid thyroxine phenyl- pyruvic acid PAH

7. Tissue ProteinsDiet PhenylalanineTyrosineDOPA Melanin DA (dopamine) NE (norepinephrine) p-hydroxy- phenlypyruvate homogentisic acid thyroxine phenyl- pyruvic acid PKU

8. Tissue ProteinsDiet PhenylalanineTyrosineDOPA Melanin DA (dopamine) NE (norepinephrine) phenyl- pyruvic acid PKU Albinism p-hydroxy- phenlypyruvate homogentisic acid thyroxine Alkaptonuria goitrous cretinism Tyrosinosis

9. Prevalence of PKU: Turkish Celtic, Northern European Other Causacsian Japanese 1/2,500 1/5,000 1/10,000 1/150,000 1/26 1/33 1/50 1/200 Births:Carriers:Ethnic Group:

10. Diet for PKU: 1) Best: Specially prepared, phe-free foods + supplements 2) Next Best: Fruits, juices, certain veggies 3) Bad: grain products, pasta, other veggies (e.g., rice, potatoes, corn, peas) 4) Really Bad: dairy products, eggs, nuts, meats, fish

11. http://www.savebabies.org/states/colorado.php Colorado currently screens for: Biotinidase Deficiency Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia (CAH) Cystic FibrosisCystic Fibrosis (CF) Galactosemia HypothyroidismHypothyroidism (congenital) PhenylketonuriaPhenylketonuria (PKU) Sickle Cell DiseaseSickle Cell Disease (SCD) and HemoglobinopathiesHemoglobinopathies