Diagnosis of Phenylketonuria | Phenylketonuria
Diagnosis of Phenylketonuria Diagnosis is carried out in two different ways as standard. One is the detection of the defective enzyme, the other is the detection of the greatly increased phenylalanine concentration in the blood. The first method is part of newborn screening as so-called tandem mass spectroscopy and indicates the defect without the need … Diagnosis of Phenylketonuria | Phenylketonuria