New Strategies for the Treatment of Phenylketonuria (PKU)

Metabolites

Pietro Strisciuglio²  Daniela Concolino¹ 

[1] Department of Pediatrics, University “Magna Graecia” of Catanzaro, Catanzaro 88100, Italy; E-Mail:;Department of Pediatrics, University “Federico II” of Naples, Naples 8823100, Italy

关键词: Glycomacropeptide (GMP);    large neutral amino acids (LNAA);    Phenylketonuria (PKU);    tetrahydropterin;    phenylalanine ammonia-lyase (PAL);   

DOI  :  10.3390/metabo4041007

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.