The effect of late treatment with a low phenylalanine diet on cognitive, motor and social development in two siblings with persistent hyperphenylalaninemia is described. The disease state is characterized by the results of laboratory investigations including serum phenylalanine and serum tyrosine levels and aromatic acid excretion following L-phenylalanine load in the patients and their parents. A suggestion is made to treat patients with persistent hyperphenylalaninemia if repeated serum phenylalanine levels on unrestricted diet exceed 12 mg/100 ml. Es wird der Effekt einer spät einsetzenden phenylalaninarmen Diät bei zwei Brüdern mit persistierender Hyperphenylalaninämie beschrieben. Der Krankheitszustand wird charakterisiert durch die Ergebnisse einer oralen LPhenylalaninbelastung auf Serumspiegel von Phenylalanin und Tyrosin und auf die Ausscheidung aromatischer Säuren im Urin bei den Patienten sowie deren Eltern. Es wird vorgeschlagen, Patienten mit persistierender Hyperphenylalaninämie dann zu behandeln, wenn wiederholte Messungen von Phenylalanin im Serum unter normaler Kost die Grenze von 12 mg/100 ml überschreiten.
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