Heterozygotes for phenylketonuria and controls were given oral loads of 100 mg and 200 mg L-phenylalanine per kilogram body weight. The concentrations of urinary aromatic acids were determined by gas-chromatography after isolation by ion-exchange chromatography and ethylacetate extraction. On an intake of 100 mg L-phenylalanine per kilogram, controls and carriers of classical phenylketonuria excreted nearly the same amounts of aromatic acids (P>0.05). However on an intake of 200 mg per kilogram L-phenylalanine they could be distinguished from one another (P<0.001).
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This work has been supported by the Deutsche Forschungsgemeinschaft
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Dahmann, G., Olek, K., Pravitz, A. et al. Influence of the phenylalanine dose on the aromatic acid excretion in phenylketonuric heterozygotes and controls after oral loading. Eur J Pediatr 129, 191–195 (1978). https://doi.org/10.1007/BF00442163
- Phenylalanine loading
- Phenylketonuric heterozygotes
- Aromatic acid excretion