Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
作者： Joachim Pietz , Roland Kreis , André Rupp , Ertan Mayatepek , Dietz Rating
DOI: 10.1172/JCI5017
关键词:
摘要: Large neutral amino acids (LNAAs), including phenylalanine (Phe), compete for transport across the blood-brain barrier (BBB) via L-type acid carrier. Accordingly, elevated plasma Phe impairs brain uptake of other LNAAs in patients with phenylketonuria (PKU). Direct effects and depleted are probably major causes disturbed development function PKU. Competition carrier might conversely be put to use lower influx when concentrations all increased. This hypothesis was tested by measuring PKU quantitative 1H magnetic resonance spectroscopy during an oral challenge without additional supplementation LNAAs. Baseline ∼1,000 μmol/l ∼250 both series. Without LNAA supplementation, increased ∼400 after load. Electroencephalogram (EEG) spectral analysis revealed acutely activity. With concurrent completely blocked there no slowing EEG These results relevant further characterization pathophysiology underlying dysfunction treatment PKU, as improved continued supplementation.
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