Research Publications

Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of the amino acid phenylalanine, which can build up to harmful levels if left untreated. Newborn screening for PKU began in 1963. Over the following decades, knowledge and treatment recommendations have evolved, with individual and family experiences varying widely.

In this essay, authors share patient stories about the early years following newborn screening for PKU. The team recorded interviews with patients born in the first 25 years after newborn screening for PKU began. While some of these patients were actively followed in the PKU clinic, others had been out of the clinic for many years.

The resulting stories describe different individual experiences, including diet discontinuation in childhood, changing treatment guidelines, and new treatments that have become available. Authors note that these stories highlight the challenges of the early years of newborn screening, when best practices were being discovered through trial and error.

Phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria (PKU), is a genetic metabolic disorder that increases the body's levels of the amino acid phenylalanine. The last large-scale natural history study of individuals with PKU in the United States was conducted over 50 years ago. Since then, there have been significant changes in treatment recommendations and options.

In this study, researchers report initial data from the PHEFREE natural history study of individuals with PKU. The team describes the structure and methods of the study, including data from 73 participants.

Authors note that this study could help validate new neurocognitive tools for assessing individuals with PKU, as well as evaluating the long-term effects of changes in metabolic control on patient outcomes.

Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of the amino acid phenylalanine, which can build up to harmful levels if left untreated. Patients with PKU are treated with dietary therapy. However, these dietary restrictions are complicated and often difficult to follow, highlighting the need for new therapies and ultimately a cure.

In this review paper, researchers summarize, compare, and evaluate state-of-the-art gene therapy approaches for PKU. Methods include recombinant viral and non-viral vector delivery; gene addition; genome, gene, or base editing; and gene insertion or replacement. A list of current and planned clinical trials for PKU gene therapy is also included.

Authors note that this review can help advance scientific understanding and efficacy testing, paving the way for safe and efficient therapies for patients with PKU.