SYMPTOMS -delayed development, failure to thrive, short stature, slow growth, intellectual disability, slowness in activity, atopic dermatitis, body odor, loss of skin color, seizures and urine odor.
TREATMENT-strict diet with limited protein
PERCENTAGES-The condition is rare in this country, only affecting about 1 in 10,000 to 15,000 newborns each year. ~a 25% chance of inheriting the condition ~a 25% chance of receiving a pair of normal genes ~a 50% chance of being carrier of PKU
CAUSE- PKU is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase. The enzyme is needed to convert the amino acid phenylalanine into other substances the body needs.
SCREENING- they are done to new borns for PKU. Is performed when the baby is 1 or 2 days old. Doctors will use a needle or heel stick to take blood from the baby's heel. Additional test may be needed for confirmation. These are done within six weeks of birth. If a child or adult shows symptom, doctors will take samples of blood for scanning.
SOCIETY- The jerking movements caused may cause them to hit someone or they may cause something to be knocked down in public stores. Behavioral difficulties- such as frequent temper tantrums and episodes of self-harming, doing this will cause disturbance to people around. Recurrent vomiting would be very hard to control outside of their own home and when this is done in public it'll make people uncomfortable if seen.