Definition – What is phenylketonuria? Phenylketonuria is a hereditary disease pattern that is expressed in a reduced breakdown of the amino acid phenylalanine. The tricky thing about the disease is that it has been present since birth and thus leads to an accumulation of the amino acid. From about the third month of life it … 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
Prognosis vs. life expectancy in phenylketonuria The life expectancy of the affected persons depends on the one hand on the present form of phenylketonuria and on the other hand on the time when the disease is diagnosed. While a normal life expectancy is possible with a normal variant of phenylketonuria, there are rare variants of … Prognosis vs. life expectancy in phenylketonuria | Phenylketonuria
