Alternative Therapies for PKU

CHIESA, ANA; SPÉCOLA, NORMA

Journal of Inborn Errors of Metabolism and Screening

SAGE

Año: 2017 vol. 5 p. 1 - 5

2326-4098

The phenylalanine (PHE)-restricted diet has improved in quality and diversity over time and has proven to be effective in allpatients. Nevertheless, this treatment imposes a heavy social and economic burden to patient and family and impacts quality of life.Sustained adherence to PHE restriction is difficult to maintain. Moreover, even patients with phenylketonuria (PKU) with normalintelligence quotient (IQ) have lower IQ than matched individuals without PKU and can have deficits in multiple other aspects ofneuropsychological function, including cognitive and executive function, working memory. They can also have behavior problems,depression, and low self-esteem. In recent years, alternative treatments for PKU have been developed and their use has beenindicated for some patients who are candidates for options besides traditional treatment. Sapropterindihydrochloride, largeneutral amino acids, and glycomacropeptide are alternative treatment options in use for selected patients. The aim of this article isto review the current knowledge of these new approaches to PKU treatment