Research of Inborn Errors of Metabolism
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".
Deadline for manuscript submissions: 31 May 2025 | Viewed by 20
Special Issue Editors
Interests: lysosomal storage disease; newborn screening; inborn errors of metabolism; dried blood spot; biomarkers
2. Adelaide Medical School, University of Adelaide, Adelaide 5005, Australia
Interests: lysosomal storage disorders; diagnosis of inborn errors of metabolism; understanding and treating inherited neurodegenerative disease
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Inborn errors of metabolism (IEMs) are genetic disorders caused by disruptions in metabolic pathways, typically due to mutations in genes encoding enzymes that metabolize proteins, fats, or carbohydrates. These disorders highlight the interplay between genetics and the environment, making them crucial for understanding both monogenic and multifactorial diseases. Enzymatic deficiencies often lead to toxic substance accumulation or shortages of essential products, disrupting normal bodily functions. This issue examines both unique and common pathogenic mechanisms and biochemical pathway disturbances that translate primary metabolic defects into clinical symptoms. IEMs often present in infancy or early childhood with varying severity, depending on the disorder and enzymatic deficiency. The discussion includes novel laboratory techniques that promise improved diagnostic and prognostic testing for these inherited diseases. Diagnosis typically involves newborn screening, genetic testing, and biochemical assays to detect abnormal metabolite levels. Addressing disease thresholds and pathophysiology can complicate therapeutic interventions, as treatments must target pathology across all affected tissues. Early diagnosis and intervention are crucial, as many IEMs can be managed with dietary changes, enzyme replacement therapy, or other treatments. Advances in genetic research enhance our understanding and management of these disorders, offering hope for improved outcomes and quality of life for affected individuals.
Dr. Vincenza Gragnaniello
Dr. Maria Fuller
Guest Editors
Manuscript Submission Information
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Keywords
- inborn errors of metabolism
- pathogenic mechanisms
- bio-chemical pathway
- inherited diseases
- diagnosis
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