Special Issue "Inborn Errors of Metabolism"


A special issue of Metabolites (ISSN 2218-1989).

Deadline for manuscript submissions: closed (30 September 2014)

Special Issue Editor

Guest Editor
Dr. Maria Fuller
Head, Translational Research Unit, Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
Website: http://www.adelaide.edu.au/foodplus/news-events/2010/special/maria-fuller/
E-Mail: maria.fuller@adelaide.edu.au

Special Issue Information

Dear Colleagues,

Archibald Garrod, at the start of the twentieth century, is credited with the notion of inborn errors of metabolism by recognizing that unique hereditary factors underpin the turnover of physiological metabolites. Half a century later, headways in technology, such as chromatography and electrophoresis, defined several of the disorders studied by Garrod to actually be the result of a block at some point in normal metabolism. More than a century later, over 1500 individual diseases have been reported and future investigations into metabolic networks are likely to see this number rise. The burgeoning field of mass spectrometry has enabled screening of infants for inborn errors of metabolism to become routine practice in mainstream neonatal care with the primary aim of early detection and treatment to minimize morbidity and mortality in early childhood. Although individually rare, inborn errors of metabolism are common, and we are only now beginning to appreciate the biochemical labyrinth and phenotypical diversity of what have traditionally been considered single gene disorders.

The natural histories of inborn errors of metabolism represent the best examples of the dynamic interplay between genetics and the milieu, and as such are a powerful tool to dissect both monogeneic and multifactorial diseases. This issue is devoted to piecing together the jigsaw of unique and common pathogenic cascades and perturbations in biochemical pathways that translate the primary metabolic defect into a clinical phenotype. Novel laboratory methodologies that will enable future implementation of more informative, accurate diagnostic and prognostic testing parameters for these important inherited diseases will also be considered. Defining disease threshold and pathophysiology makes therapeutic intervention particularly challenging for many of the complex inborn errors of metabolism, as therapies need to be directed towards correcting pathology in all affected tissues to restore health. Articles addressing therapies are highly desirable.

Dr. Maria Fuller
Guest Editor


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. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as 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 refereed through a 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 quarterly 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 800 CHF (Swiss Francs).


  • metabolic pathways
  • mass spectrometry
  • inherited metabolic disease
  • newborn screening
  • laboratory diagnostics
  • metabolites
  • enzymes
  • treatment

Published Papers (4 papers)

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Displaying article 1-4
p. 1088-1100
by , ,  and
Metabolites 2014, 4(4), 1088-1100; doi:10.3390/metabo4041088
Received: 22 September 2014 / Revised: 27 November 2014 / Accepted: 3 December 2014 / Published: 11 December 2014
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(This article belongs to the Special Issue Inborn Errors of Metabolism)
p. 1007-1017
by  and
Metabolites 2014, 4(4), 1007-1017; doi:10.3390/metabo4041007
Received: 21 May 2014 / Revised: 27 October 2014 / Accepted: 30 October 2014 / Published: 4 November 2014
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(This article belongs to the Special Issue Inborn Errors of Metabolism)
p. 977-1006
by , ,  and
Metabolites 2014, 4(4), 977-1006; doi:10.3390/metabo4040977
Received: 31 May 2014 / Revised: 14 October 2014 / Accepted: 16 October 2014 / Published: 3 November 2014
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(This article belongs to the Special Issue Inborn Errors of Metabolism)
p. 655-679
by , , , , , , , , , , , ,  and
Metabolites 2014, 4(3), 655-679; doi:10.3390/metabo4030655
Received: 18 June 2014 / Revised: 26 July 2014 / Accepted: 28 July 2014 / Published: 11 August 2014
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Last update: 18 June 2014

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