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Metabolites 2014, 4(4), 1007-1017;

New Strategies for the Treatment of Phenylketonuria (PKU)

Department of Pediatrics, University "Federico II" of Naples, Naples 8823100, Italy
Department of Pediatrics, University "Magna Graecia" of Catanzaro, Catanzaro 88100, Italy
Author to whom correspondence should be addressed.
Received: 21 May 2014 / Revised: 27 October 2014 / Accepted: 30 October 2014 / Published: 4 November 2014
(This article belongs to the Special Issue Inborn Errors of Metabolism)
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Phenylketonuria (PKU) was the first inherited metabolic disease in which dietary treatment was found to prevent the disease’s clinical features. Treatment of phenylketonuria remains difficult due to progressive decrease in adherence to diet and the presence of neurocognitive defects despite therapy. This review aims to summarize the current literature on new treatment strategies. Additions to treatment include new, more palatable foods based on glycomacropeptide that contains very limited amount of aromatic amino acids, the administration of large neutral amino acids to prevent phenylalanine entry into the brain or tetrahydropterina cofactor capable of increasing residual activity of phenylalanine hydroxylase. Moreover, human trials have recently been performed with subcutaneous administration of phenylalanine ammonia-lyase, and further efforts are underway to develop an oral therapy containing phenylanine ammonia-lyase. Gene therapy also seems to be a promising approach in the near future. View Full-Text
Keywords: Glycomacropeptide (GMP); large neutral amino acids (LNAA); Phenylketonuria (PKU); tetrahydropterin; phenylalanine ammonia-lyase (PAL) Glycomacropeptide (GMP); large neutral amino acids (LNAA); Phenylketonuria (PKU); tetrahydropterin; phenylalanine ammonia-lyase (PAL)

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Strisciuglio, P.; Concolino, D. New Strategies for the Treatment of Phenylketonuria (PKU). Metabolites 2014, 4, 1007-1017.

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