Phenylketonuria (PKU)

Phenylketonuria
(PKU)
What is it?
*Inherited disorder- enzyme that processes phenylalanine (amino acid) is missing
-resulting in a dangerously high level of phenylalanine in the blood
*In a pregnant women- can cause mental and physical retardation for infant
-small head, heart disease
Signs and Symptoms:
*Toxic to brain- causing mental retardation (MR)
*Absent in newborns
*Lighter skin, eyes and hair than family members without the disorder
*Rash like eczema
*Seizures, nausea/vomiting, aggressive/self injury behavior, hyperactivity,
sometimes psychiatric symptoms
*Mousy body odor (by-product of phenylketonuria)- in sweat and urine
Facts:
*Phenylalanine- converts to tyrosine (another amino acid)
-eliminated by the body
*Seldom seen in- Jews of Eastern European ancestry and blacks
*1 in 16, 000 live births
*Untreated results in some degree of mental retardation
*Screening pinpoints- low tyramine level and high phenylalanine level
-amniocentesis needs to be done
What can I do?
*See your Physician
*See a RD for help with a Low Phenylalanine Diet Plan
-Protein contain 4% phenylalanine
*See FFF RD on line for help with Meal Planning, Diet, etc...