Nutritional Treatment and Screening for Hereditary Metabolic Disorders
A special issue of Nutrients (ISSN 2072-6643). This special issue belongs to the section "Pediatric Nutrition".
Deadline for manuscript submissions: 25 January 2025 | Viewed by 31
Special Issue Editors
Interests: newborn; metabolic diseases; urea cycle disorders; newborn screening; nutritional treatment
Interests: hereditary metabolic diseases; mitochondrial diseases; newborn screening; nutritional treatment
Interests: hereditary diseases; inborn errors of metabolism; newborn screening; early identification and therapy; nutritional treatment
Special Issue Information
Dear Colleagues,
Neonatal screening for metabolic disorders has expanded significantly since its inception in the early 1960s. The introduction of tandem mass spectrometry in the late 1990s has enabled the detection of approximately 40 conditions, including aminoacidopathies, organic acidemias and fatty acid beta-oxidation defects. Nutritional management is crucial in these conditions to prevent mortality, metabolic crises, and long-term complications. This management often involves restricting precursors of toxic metabolites and supplementing deficient precursors while ensuring adequate caloric intake. Additionally, supplementation with cofactors, vitamins, or specialized metabolic formulas is often required.
Despite significant advancements over the past two decades, numerous challenges remain. These include differentiating between severe and mild phenotypes, identifying sensitive and specific markers for the presymptomatic diagnosis of treatable conditions such as certain urea cycle disorders, harmonizing newborn screening programs, implementing advanced therapies, and providing recommendations for breastfeeding in infants with inherited metabolic diseases. These advancements are all aimed at ultimately improving patients' quality of life and clinical outcomes.
This Special Issue “Nutritional Treatment and Screening for Hereditary Metabolic Disorders” aims to highlight the latest research in this field, and we welcome original articles, case reports, experimental studies and reviews.
Dr. Elena Martín-Hernández
Dr. Marcello Bellusci
Dr. Pilar Quijada-Fraile
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.
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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 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.
Keywords
- inherited metabolic diseases
- inborn error of metabolism
- nutritional treatment
- newborn screening
