Phenylpyruvic acid (PPA) was not found in the plasma of non-phenylketonuric subjects
or phenylketonuric heterozygotes but it was present in the plasma of patients with
untreated “classical” phenylketonuria. The mean plasma PPA level in 96 patients was
0.84 mg/100 ml with a range of from 0.10 to 1.68 mg/100 ml. Plasma phenylalanine,
plasma PPA and urinary PPA levels were significantly intercorrelated and were dependent
on the dietary phenylalanine intake. Five subjects with “atypical” phenylketonuria
had PPA levels in the plasma consistent with their plasma phenylalanine levels. A
3 week old girl with untreated “classical” phenylketonuria had significant amounts
of PPA in the plasma but almost none in the urine.
Phenylketonuria - Phenylketonemia - Phenylpyruvic acid - Mental retardation
