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Review
. 2010 Dec;33(6):671-6.
doi: 10.1007/s10545-010-9216-1. Epub 2010 Oct 26.

Large neutral amino acids in the treatment of PKU: from theory to practice

Francjan J van Spronsen  1 , Martijn J de Groot, Marieke Hoeksma, Dirk-Jan Reijngoud, Margreet van Rijn
Affiliations
Review

Large neutral amino acids in the treatment of PKU: from theory to practice

Francjan J van Spronsen et al. J Inherit Metab Dis. 2010 Dec.

Abstract

Notwithstanding the success of the traditional dietary phenylalanine restriction treatment in phenylketonuria (PKU), the use of large neutral amino acid (LNAA) supplementation rather than phenylalanine restriction has been suggested. This treatment modality deserves attention as it might improve cognitive outcome and quality of life in patients with PKU. Following various theories about the pathogenesis of cognitive dysfunction in PKU, LNAA supplementation may have multiple treatment targets: a specific reduction in brain phenylalanine concentrations, a reduction in blood (and consequently brain) phenylalanine concentrations, an increase in brain neurotransmitter concentrations, and an increase in brain essential amino acid concentrations. These treatment targets imply different treatment regimes. This review summarizes the treatment targets and the treatment regimens of LNAA supplementation and discusses the differences in LNAA intake between the classical dietary phenylalanine-restricted diet and several LNAA treatment forms.

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Figures

Fig. 1
Fig. 1
Prescribed large neutral amino acids intake (g/day) on different treatment regimes
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