Rapid Analysis for the Diagnosis of PKU
Phenylketonuria (PKU) is a genetic inborn error of metabolism, that is detectable during the first days
of life with appropriate blood testing. The absence or deficiency of an enzyme that is responsible for
processing the essential amino acid phenylalanine characterizes PKU.
Routine newborn screening is necessary to allow affected infants to be treated and monitored appropriately.
of life with appropriate blood testing. The absence or deficiency of an enzyme that is responsible for
processing the essential amino acid phenylalanine characterizes PKU.
Routine newborn screening is necessary to allow affected infants to be treated and monitored appropriately.