New Strategies for the Treatment of Phenylketonuria (PKU).

[phenylketonuria]

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 .