Special Issue "Metabolomics in the Diagnostics of Rare Disease"

A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Metabolomic Profiling Technology".

Deadline for manuscript submissions: 1 March 2022.

Special Issue Editor

Dr. J.J.M. (Judith) Jans
E-Mail Website
Guest Editor
University Medical Center Utrecht, Center for Molecular Medicine, Utrecht, The Netherlands
Interests: inborn errors of metabolism; untargeted metabolomics; genetic metabolic diagnostics; disease discovery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The number of genetic (metabolic) diseases discovered through novel technologies is still expanding rapidly. Many of these diseases are rare or ultra-rare, challenging timely recognition and thereby diagnosis. Individual metabolites or multifactorial metabolic fingerprints that serve as a biomarker aid in rapid and accurate diagnosis. The possibilities offered by recent technical improvements in metabolic diagnostics are enormous, but some challenges that come along with rare diseases remain. For example, the limited access to clinical samples for discovery and validation hampers the implementation of artificial intelligence to disclose biochemical patterns.

This Special Issue is devoted to the most recent advances in metabolomics in the diagnostics of rare disease, and is now open for submissions. Topics that will be covered by this Special Issue include but are not limited to developments in novel metabolic diagnostic methods, the identification of metabolites with clinical relevance for patients with genetic (metabolic) disorders, the application of artificial intelligence in rare disease, and novel pathophysiological insights into genetic (metabolic) disorders. Reviews will also be considered. We are looking forward to receiving your submissions.

Dr. J.J.M. (Judith) Jans
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 papers will be 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. Metabolites is an international peer-reviewed open access monthly 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 2000 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.


  • untargeted metabolomics
  • inborn metabolic disorder
  • rare disease
  • diagnostics
  • metabolic fingerprint

Published Papers

This special issue is now open for submission.
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