Clinical and Laboratory Diagnosis of Inherited Metabolic Diseases in Children
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Laboratory Medicine".
Deadline for manuscript submissions: 31 May 2026 | Viewed by 754
Special Issue Editor
2. Department of Pediatrics, Center of Postgraduate Medical Education, Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage diseases (LSDs); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS); autism spectrum disorders
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Inherited metabolic diseases (IMDs), also known as inborn errors of metabolism, constitute a group of genetically determined (mostly monogenic) disorders associated with defects in proteins involved in various biochemical processes (pathways). An exact defect in the protein’s structure or its function results from the presence of pathogenic molecular variants (formerly mutations) in protein-coding genes. The diagnosis of IMD is based on the principle of selective screening—if a symptom/cluster of symptoms suggest(s) a (known) metabolic disease, testing for this condition is performed, not necessarily to confirm the suspicion, but also to rule it out. Confirming the clinical diagnosis of IMD often requires highly specialized testing, including biochemical and molecular (genetic) analyses. As pediatricians play the crucial role in the diagnosis and management of IMDs, it is imperative that clinicians do not miss early opportunities for diagnosis.
Young researchers are welcome to present their achievements, and pediatricians to share their experience and insights from their clinical practice. All are invited to present new metabolic disorders identified by various diagnostic techniques. We encourage researchers to describe the advantages of new diagnostic methods as well as the pitfalls of common diagnostic methods of IMDs.
Dr. Patryk Lipiński
Guest Editor
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Keywords
- newborn screening
- selective screening
- inherited metabolic disease
- biochemical diagnostics
- biomarkers
- molecular analysis
- next-generation sequencing
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