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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 6/2010

Open Access 01-12-2010 | Advances and Challenges in PKU

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

Authors: Francjan J. van Spronsen, Martijn J. de Groot, Marieke Hoeksma, Dirk-Jan Reijngoud, Margreet van Rijn

Published in: Journal of Inherited Metabolic Disease | Issue 6/2010

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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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Metadata
Title
Large neutral amino acids in the treatment of PKU: from theory to practice
Authors
Francjan J. van Spronsen
Martijn J. de Groot
Marieke Hoeksma
Dirk-Jan Reijngoud
Margreet van Rijn
Publication date
01-12-2010
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 6/2010
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-010-9216-1

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