PKU: Phenylketonurin By Amit Khosla, Dan Poor, Jason Powell, Lisa Smith, Amber Spiering, Liz Viola

Clinical Synopsis Mental retardation Mental retardation Mouse odor Mouse odor Light pigmentation Light pigmentation Odd stance and sitting Odd stance and sitting Epilepsy Epilepsy

Genetic Defect Autosomal recessive mutations in the gene for phenylalanine hydroxylase Heterogenity in the mutant alleles with many patients being compound heterozygotes Incidence  1/50,000 African Americans  Origin in Celtic cultures (Ireland, Scotland)

Treatment of PKU Low phenylalanine diet – can bring level from 15mg per decilter to 10mg per deciliter Low phenylalanine diet – can bring level from 15mg per decilter to 10mg per deciliter  During pregnancy and continued through adulthood  Especially important immediately after birth

Guthrie Test A heel prick test where blood samples are taken from the heel A heel prick test where blood samples are taken from the heel Performed 6 to 7 days after birth Performed 6 to 7 days after birth Test for 7 conditions Test for 7 conditions  CAH, Cystic Fibrosis, Galactosaemic, Maple Syrup Urine Disease, Biotindase Deficiency, Hypothyroidism, PKU

If the test is Positive for PKU The condition is best when caught early. The condition is best when caught early. The parents can be consoled by reassurance that the condition is treatable with a special diet. The parents can be consoled by reassurance that the condition is treatable with a special diet. A relatively normal diet can be achieved by age 18. A relatively normal diet can be achieved by age 18.