Inborn Errors of Metabolism (IEMs): Advances in Diagnosis and Treatment
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".
Deadline for manuscript submissions: 25 July 2025 | Viewed by 132
Special Issue Editor
Special Issue Information
Dear Colleagues,
Newborn screening for Inborn Errors of Metabolism (IEMs) is one the most important public health initiatives of this century. It was initially introduced in the 1960s as a part of the population screening for malignancies conducted by Dr. Robert Guthrie, who had previously realized that blood from a newborn baby's heel onto filter paper could be eluted and tested for phenylketonuria. Subsequently, other amino acid disorders, organic acidurias, and some urea cycle disorders could similarly be tested.
For several years, a single disorder was diagnosed through a single test. In the 1960s, fatty acid oxidation disorders, especially medium-chain acylcarnitine deficiency (MCAD), had significant mortality in the newborn period. In order to test as many infants as possible, tandem mass spectrometry (MS-MS) was performed, which could identify pathogenic acylcarnitines very quickly, confirm the diagnosis, and start treatment. Pilot studies were carried out in Australia, Germany, and the US, with much success. However, in the US, each state determines how to manage the NBS programs, often with limited testing panels. Now, however, each US state tests the whole panel, and most countries have standard testing.
Meanwhile, more disorders are being added to the panels, e.g., lysosomal disorders, lipidoses, cystic fibrosis, and galactosemia.
Currently, there is much discussion on whether it would be more beneficial to move to whole exome sequencing. The UK soon plans for every newborn to have whole exome sequencing (WES). However, there is concern about cost and the interpretation of the results.
In light of these ongoing discussions, this Special Issue welcomes submissions of original research articles, review papers, and opinion pieces to share the latest findings, experiences, and perspectives on newborn screening and clinical management for inborn errors of metabolism (IEMs).
Dr. Deborah Marsden
Guest Editor
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Keywords
- filter papers
- tandem MS-MS
- whole exome sequencing
- phenylketonuria
- fatty acid oxidation disorders
- newborn screening
- inborn errors of metabolism (IEMs)
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