Topic: Genetics Screening and Therapy of Newborn Phenylketonuria

Newborn screening has revolutionized the early detection of inherited metabolic disorders, with phenylketonuria (PKU) standing as a pioneering example. As the first condition widely included in newborn screening programs, PKU has shaped decades of progress in genetic diagnostics, dietary therapy, and patient care. Today, rapid advances in screening technologies, therapeutic strategies, and multi-omics approaches are transforming PKU care, with many novel treatments on the horizon. Global screening efforts have also revealed diverse mutation spectra and varying healthcare system responses. However, significant challenges remain, including clinical heterogeneity, variable long-term treatment outcomes, disparities in global access to screening and care, and ethical considerations surrounding genomic newborn screening.

This Special Issue aims to gather cutting-edge research and comprehensive reviews on genetic screening technologies, therapeutic advancements, and clinical management strategies for PKU. We welcome contributions from genetics, metabolism, pediatrics, public health, and translational research communities.

Topics of interest include, but are not limited to:

1. Innovations in genomic screening technologies for early PKU diagnosis;

2. Advances in dietary and pharmacologic therapies;

3. Neuropsychological outcomes of treatment;

4. Gene therapy and emerging molecular treatments;

5.  Global experiences and outcomes of newborn screening programs;

6. Ethical, legal, and social implications (ELSI) of genomic screening and genetic counseling for PKU;

7. Integration of multi-omics and AI in PKU diagnosis and personalized care.

We invite original research articles, comprehensive reviews, and insightful perspectives that illuminate both current progress and future directions in this rapidly evolving field. Through this Special Issue, we hope to foster interdisciplinary collaboration and promote innovations that will ultimately improve the lives of children affected by PKU.

Phenylketonuria, newborn screening, genomic medicine, gene therapy, inborn errors of metabolism, precision pediatrics, PKU treatment, genotype-phenotype, metabolic disorders