Nutritional Treatment and Screening for Inherited Metabolic Diseases
A special issue of Nutrients (ISSN 2072-6643). This special issue belongs to the section "Nutrition and Metabolism".
Deadline for manuscript submissions: 25 October 2025 | Viewed by 574
Special Issue Editors
Interests: newborn; metabolic diseases; urea cycle disorders; newborn screening; nutritional treatment
Special Issues, Collections and Topics in MDPI journals
Interests: hereditary metabolic diseases; mitochondrial diseases; newborn screening; nutritional treatment
Special Issues, Collections and Topics in MDPI journals
Interests: hereditary diseases; inborn errors of metabolism; newborn screening; early identification and therapy; nutritional treatment
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Inherited metabolic diseases (IMDs), also known as inborn errors of metabolism, are a group of genetic disorders caused by pathogenic variants affecting specific metabolic enzymes or pathways. Although individually rare, they collectively have a significant impact on global morbidity and mortality.
IMDs typically result in the accumulation of toxic metabolites or a deficiency of essential biochemical products, disrupting cellular function and energy production. Given the fundamental role of metabolism in all organ systems, these disorders often lead to severe multisystem manifestations if untreated.
Advances in newborn screening have improved early diagnosis, enabling timely interventions. Treatment varies depending on the specific metabolic defect and may include dietary modifications, cofactor supplementation, enzyme replacement therapy, or, in severe cases, organ or stem cell transplantation. Emerging research is increasingly focused on gene therapy as a potential curative approach.
This Special Issue, “Nutritional Treatment and Screening for Inherited Metabolic Diseases”, 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
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Keywords
- inherited metabolic diseases
- inborn errors of metabolism
- newborn screening
- nutritional treatment for inherited metabolic diseases
- enzymatic treatment
- gene therapy
- liver transplant
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