Case Study: Phenylketonuria (PKU)

Bobby Orr Adam Edwards Danielle Heinbaugh

Introduction: What is PKU?

j PKU (Phenylketonuria) is a disorder

defined as the inability to metabolize the essential amino acid phenylalanine j This can cause mental retardation, if untreated, although sufficient treatment can occur immediately after birth

Symptoms:
j The main symptom consists of mild to

moderate mental retardation, but this is easily prevented through treatment j However, other side effects include seizures, vomiting, a mousy odor, and behavioral self-mutilation j In some cases, treatment can reduce or reverse the mental retartadtion

The Guthrie Test:

j determines the phenylalanine level in the

blood j should be done on the second or third day of life j is a screening test done to identify elevated phenylalanine levels it is not diagnostic j PKU babies phenylalanine level is usually 20-40 mg/dl in comparison with normal levels of 4-6 mg/dl.

How the Guthrie Test works:

j Blood on filter paper is placed on agar

plates with a strain of bacillus subtilis that requires phenylalanine for growth. j The presence of growth is indicated by a halo surrounding the filter paper. j If positive, blood phenylalanine and tyrosine levels are determined, and if elevated, a confirmatory assay for phenylalanine hydroxylase is done.

PKU Inheritance:
Inherited as autosomal recessive disorder. Variation to classical symptoms is result of compound heterogeneity. 65 allelic variants make compound heterogeneity more common then homogeneity for the same allele.

Treatment of PKU:
Phenylketonuria is treatable with a low phenylalanine diet. phenylalanine levels should be kept below 15 mg per deciliter Nutra sweet is especially high in phenylalanines

Genetic Counseling:
j Tell the parents that the baby will be normal

if they follow the prescribed dietary guidelines j The child is normally out of danger of the disease after puberty j Phenylalanine should be avoided
Stay away from nutra sweet, meats, dairy products