Phenylketonuria (PKU): Molecular Advances in Pathophysiology and Therapies

Dear Colleagues,

Phenylketonuria (PKU), a well-known inheritance disorder caused by the deficiency or absence of phenylalanine hydroxylase (PAH), is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause neurological dysfunction. If it remains untreated, severe intellectual disability, epilepsy and behavioral problems arise. Early diagnosis is based on newborn screening, and if treatment is started early and continued neurocognitive function is preserved. Dietary restriction of phenylalanine has been the main treatment option for the last decades until new therapeutic options have arouse such as pharmacological (tetrahydrobiopterin), and enzyme therapy (pegylated phenylalanine ammonia lyase, PALYNZIQ^TM). Other are under development, such as mRNA and gene therapy. Even though PAH deficiency is the most common defect of amino acid metabolism, the pathophysiology of PKU is still not completely understood, and further research is required to improve therapeutic options.

This Special Issue aims to provide new insights into molecular advances of the pathophysiology of the metabolic disease Phenylketonuria and the insights into the therapeutic options and new approaches currently under clinical development.

In this Special Issue, original scientific research articles and reviews are welcome. Research areas may include (but not limited to) the following: communications, case reports, letters, commentaries, editorials, etc.

We are pleased to invite you to contribute to this special issue and improve the knowledge of this paradigmatic disease.

We look forward to receiving your contributions.

Dr. Alejandra Gamez
Dr. Sandra Brasil
Guest Editors

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• phenylketonuria
• metabolic disease
• rare disease
• pharmacological chaperones
• enzyme therapy
• gene therapy
• RNA therapy
• DNAJ