Definitions for "Phenylketonuria"
Newborns are screened for this lack of an enzyme to properly convert the amino acid phenylalanine to tyrosine. Those with the condition require immediate and efficient treatment for norml development and intelligence. They will need lifelong diet management.
Hereditary metabolic disorder in which a baby cannot break down a protein called phenylalanine;untreated, it builds up in the brain and affects brain development. Can be effectively treated by a phenylalanine-low diet.
A genetic disorder that, through a deficiency in a liver enzyme, phenylalanine hydroxylase, causes severe mental retardation unless phenylalanine can be largely restricted from the diet.