Large Neutral Amino Acid Supplementation

The large neutral amino acids (LNAAs), phenylala-nine, tyrosine, tryptophan, and the branched-chain amino acids share the same L-amino acid transport system across the blood-brain barrier. Therefore, high levels of phenylalanine in the blood impede the transport of these other amino acids into the central nervous system (CNS). Tyrosine and tryptophan are important neurotransmitter precursors, relative deficiency or imbalance of which may contribute to the neuropsychiatric symptoms seen in some adult PKU patients who have resumed an unrestricted diet. Treatment with supplemental LNAAs (in tablet form) theoretically will increase the competition with phenylalanine for transport into the CNS. A net reduction in phenylalanine and an increase in CNS tyrosine and tryptophan may result in improvement in symptoms. Long-term outcome data are not yet available. This treatment is not suitable for children or women in the childbearing years who might be contemplating pregnancy.

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