Advances of Phenylketonuria in Children

Dear Colleagues,

In 1934, when Dr. Følling detected phenylpyruvic acid in the urine of two siblings with severe intellectual disability in Norway, the association between a metabolic disorder and intellectual disability was established for the first time in the history of medicine. In 1946, the English geneticist Lionel Penrose would name the disease discovered by Dr. Følling phenylketonuria (PKU). In the 1950s, Horst Bickel, at Birmingham Children's University Hospital, UK, laid the foundations for the use of phenylalanine-free amino acid formulas as the mainstay of PKU treatment. In 1963, Dr. Guthrie, in the U.S.A. developed a method for measuring phenylalanine from dried blood spots of newborns; this enabled the establishment of population-scale PKU neonatal screening programs. However, important drawbacks remain in the management of PKU. Adherence to dietary therapy, especially after the first decade of life, is often unsatisfactory, with consequences for neurocognitive function. Behavioral and emotional problems are still described in many continuously treated children and adolescents. The neuropathology of PKU remains a major knowledge gap. Sapropterin, an oral form of tetrahydrobiopterin, is an alternative pharmacological treatment for a subset of patients with PKU, mainly those with mild or moderate metabolic phenotypes. It is not known whether pegylated phenylalanine ammonia lyase, which requires daily subcutaneous injections, is safe and effective in children. Considering this scenario, we invite our colleagues to contribute reviews and original articles to this Special Issue investigating the quality of life, behavioral and emotional problems, adherence to dietary treatment, neuropathology, and pharmacological therapies of PKU in children, including preclinical (in vitro and animal models) and clinical studies.

Dr. Eduardo Vieira Neto
Prof. Dr. Márcia Gonçalves Ribeiro
Guest Editors

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