PKU: Phenylketonurin

By Amit Khosla, Dan Poor, Jason By Amit Khosla, Dan Poor, Jason Powell, Lisa Smith, Amber Spiering, Powell, Lisa Smith, Amber Spiering,

Liz ViolaLiz Viola

Clinical Synopsis

Mental retardationMental retardation Mouse odorMouse odor Light pigmentationLight pigmentation Odd stance and sittingOdd stance and sitting EpilepsyEpilepsy

Genetic Defect

Autosomal recessive Autosomal recessive mutations in the gene for mutations in the gene for phenylalanine hydroxylase phenylalanine hydroxylase

Heterogenity in the mutant Heterogenity in the mutant alleles with many patients alleles with many patients being compound being compound heterozygotesheterozygotes

IncidenceIncidence 1/50,000 African 1/50,000 African

AmericansAmericans Origin in Celtic cultures Origin in Celtic cultures

(Ireland, Scotland)(Ireland, Scotland)

Treatment of PKU

Low phenylalanine diet – can bring level Low phenylalanine diet – can bring level from 15mg per decilter to 10mg per from 15mg per decilter to 10mg per deciliterdeciliter During pregnancy and continued through During pregnancy and continued through

adulthoodadulthood Especially important immediately after Especially important immediately after

birthbirth

Guthrie Test

A heel prick test where blood samples are A heel prick test where blood samples are taken from the heeltaken from the heel

Performed 6 to 7 days after birthPerformed 6 to 7 days after birth Test for 7 conditionsTest for 7 conditions

CAH, Cystic Fibrosis, Galactosaemic, CAH, Cystic Fibrosis, Galactosaemic, Maple Syrup Urine Disease, Biotindase Maple Syrup Urine Disease, Biotindase Deficiency, Hypothyroidism, PKUDeficiency, 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 The parents can be consoled by reassurance

that the condition is treatable with a special that the condition is treatable with a special diet.diet.

A relatively normal diet can be achieved by A relatively normal diet can be achieved by age 18.age 18.

http://www.peds.umn.edu/pku/Genetics.html