Molecular Insights into Inherited Metabolic Disorders
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Metabolism".
Deadline for manuscript submissions: 28 February 2026 | Viewed by 13
Special Issue Editor
Interests: battens disease; niemann pick disease; paediatric metabolic medicine; rare paediatric diseases
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
We are pleased to announce this Special Issue focused on the molecular pathogenesis of inherited metabolic disorders (IMDs). With over 1500 identified disorders affecting approximately 1 in 1000 individuals, IMDs represent a critical area of study at the intersection of biochemistry, cell biology, and genetics. These disorders, caused by defects in metabolic enzymes, transporters, or regulatory proteins, provide unique insights into fundamental biological processes and their dysregulation in disease states.
This Special Issue seeks to assemble high-quality research articles elucidating the molecular and cellular mechanisms underlying IMD pathogenesis. We particularly encourage submissions that employ innovative approaches to the following:
- Characterizing novel disease mechanisms at cellular and molecular levels;
- Investigating metabolic pathway dysregulation;
- Exploring protein structure–function relationships;
- Developing advanced model systems for mechanistic studies;
- Identifying new therapeutic targets through molecular approaches.
We welcome original research articles and comprehensive reviews addressing topics including, but not limited, to the following:
- Enzyme kinetics and catalytic mechanisms;
- Protein folding and stability defects;
- Metabolic flux analysis and metabolic network modeling;
- Organelle-specific dysfunction (lysosomes, peroxisomes, mitochondria);
- Cellular stress responses and metabolic adaptation;
- Molecular biomarkers of disease progression;
- Novel therapeutic strategies targeting molecular defects.
We look forward to your valuable contributions to advance our understanding of these complex disorders at molecular level.
Prof. Dr. Paul Gissen
Guest Editor
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.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 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
- metabolic disorders
- enzyme defects
- protein misfolding
- metabolic pathways
- cellular metabolism
- molecular pathology
- disease mechanisms
- therapeutic targets
- organelle dysfunction
- metabolic networks
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
