Special Issue "Newborn Screening for Disorders of Amino Acid Metabolism"

Dear Colleagues,

Inborn metabolic disorders affecting amino acid metabolism are generally rare but are, by their nature, complex and challenging conditions. They comprise a very heterogeneous group of diseases with highly variable presentations. Clinical severity may range from occasional incidental findings in some cases to overwhelming illness, brain damage, or multiorgan involvement in others. Neonatal screening for amino acid-related diseases became feasible as a result of the pioneering work of Robert Guthrie who developed a method which was used to detect phenylketonuria (PKU) by means of a semi-quantitative microbiological bioassay. Tandem mass spectrometry (MS/MS) has emerged as a rapid analysis technology with high sensitivity and specificity, which can be used to test PKU and a variety of amino acid-related disorders. In the last decades we have acquired great knowledge of the most informative biomarkers and desirable cut-off points to detect these diseases with optimal analytical performance.

This Special Issue will focus on the key contemporary aspects surrounding newborn screening for amino acid-related disorders. These key issues include the various techniques and novel biomarkers available for this newborn screening, screening algorithms, second-tier testing, diagnosis, short-term and long-term follow-up, analytical performance, the cost effectiveness, challenges and controversies. We encourage the submission of original research articles, communications, and topical reviews on all these mentioned aspects related to amino acid metabolism disorders and newborn screening. Further ideas can also be considered and should be discussed with the Guest Editors.

Dr. Raquel Yahyaoui
Dr. Cristiano Rizzo
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.