Pediatric Inherited Metabolic Diseases: The Challenge Continues
A special issue of Children (ISSN 2227-9067).
Deadline for manuscript submissions: 25 May 2025 | Viewed by 28
Special Issue Editors
Interests: pediatric metabolic disease; pediatric endocrinology; neonatology; congenital abnormalities; congenital adrenal hyperplasia; disorders of sex development
Special Issue Information
Dear Colleagues,
Inherited Metabolic Diseases (IMDs) are an expanding group of rare diseases caused by genetic defects in various biochemical pathways, leading to disrupted metabolism and the accumulation of usually toxic intermediate metabolites.
In recent decades, this field of study has undergone an extraordinarily rapid revolution in the number of known pathologies, diagnostic methods, clinical approaches, and therapeutic interventions. Expanded newborn screening and the constant improvement of genetic investigations have exponentially increased the number of diagnoses made and the children in follow-up. New enzyme and gene therapies show great promise in improving the clinical outcome of our patients as never before in our history. These new realities have also opened many new challenges, which scientists are working on in medical research.
This Special Issue will focus on IMDs in pediatrics and report new findings regarding their clinical, biochemical, and genetic presentations, as well as information about the management and outcomes.
Dr. Rita Ortolano
Guest Editor
Dr. Egidio Candela
Guest Editor Assistant
Manuscript Submission Information
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Keywords
- pediatric inherited metabolic disease
- newborn screening
- genetic disorders
- gene therapy
- tandem mass
- urea cycle
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