Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
6.9
3.7
Journals
Metabolites
Special Issues
Research of Inborn Errors of Metabolism
share announcement

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 October 2025 | Viewed by 1621

Special Issue Editors

Dr. Vincenza Gragnaniello

E-Mail Website
Guest Editor
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35128 Padua, Italy
Interests: lysosomal storage disease; newborn screening; inborn errors of metabolism; dried blood spot; biomarkers
Dr. Maria Fuller

E-Mail Website
Guest Editor
1. Genetics and Molecular Pathology, SA Pathology (at Women's and Children's Hospital), North Adelaide 5006, Australia
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

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. 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 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

  • inborn errors of metabolism
  • pathogenic mechanisms
  • bio-chemical pathway
  • inherited diseases
  • diagnosis

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.

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

12 pages, 246 KiB  
Article
Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene
by Jean-Marc T. Jreissati, Leonard Lawandos, Julien T. Jreissati and Pascale E. Karam
Metabolites 2025, 15(7), 491; https://doi.org/10.3390/metabo15070491 - 21 Jul 2025
Viewed by 385
Abstract
Background: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the SLC52A2 gene leading to progressive ataxia, polyneuropathy, and hearing and visual impairment. The early initiation of [...] Read more.
Background: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the SLC52A2 gene leading to progressive ataxia, polyneuropathy, and hearing and visual impairment. The early initiation of riboflavin therapy can prevent or mitigate the complications. To date, only 200 cases have been reported, mostly in consanguineous populations. The p.Gly306Arg founder mutation, identified in patients of Lebanese descent, is the most frequently reported worldwide. It was described in a homozygous state in a total of 21 patients. Therefore, studies characterizing the phenotypic spectrum of this mutation remain scarce. Methods: A retrospective review of charts of patients diagnosed with riboflavin transporter deficiency type 2 at a tertiary-care reference center in Lebanon was performed. Clinical, biochemical, and molecular profiles were analyzed and compared to reported cases in the literature. Results: A total of six patients from three unrelated families were diagnosed between 2018 and 2023. All patients exhibited the homozygous founder mutation, p.Gly306Arg, with variable phenotypes, even among family members. The median age of onset was 3 years. Diagnosis was achieved by exome sequencing at a median age of 5 years, as clinical and biochemical profiles were inconsistently suggestive. The response to riboflavin was variable. One patient treated with high-dose riboflavin recovered his motor function, while the others were stabilized. Conclusions: This study expands the current knowledge of the phenotypic spectrum associated with the p.Gly306Arg mutation in the SLC52A2 gene. Increased awareness among physicians of the common manifestations of this rare disorder is crucial for early diagnosis and treatment. In the absence of a consistent clinical or biochemical phenotype, the use of next-generation sequencing as a first-tier diagnostic test may be considered. Full article
(This article belongs to the Special Issue Research of Inborn Errors of Metabolism)

Review

Jump to: Research

21 pages, 1041 KiB  
Review
The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders
by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro and Alberto B. Burlina
Metabolites 2025, 15(6), 361; https://doi.org/10.3390/metabo15060361 - 29 May 2025
Viewed by 842
Abstract
Background: Lysosomal storage disorders (LSDs) are rare inherited metabolic diseases characterized by defects in lysosomal enzyme function or membrane transport. These defects lead to substrate accumulation and multisystemic manifestations. This review focuses on gastrointestinal (GI) involvement in LSDs, which is a significant but [...] Read more.
Background: Lysosomal storage disorders (LSDs) are rare inherited metabolic diseases characterized by defects in lysosomal enzyme function or membrane transport. These defects lead to substrate accumulation and multisystemic manifestations. This review focuses on gastrointestinal (GI) involvement in LSDs, which is a significant but often overlooked aspect of these disorders. Methods: A comprehensive literature review was conducted to examine the pathophysiology, clinical presentation, diagnosis and management of GI manifestations in several LSDs, including Fabry disease, Gaucher disease, Pompe disease, Niemann–Pick disease type C, mucopolysaccharidoses and Wolman disease. Results: The pathogenesis of GI involvement in LSDs varies and encompasses substrate accumulation in enterocytes, mesenteric lymphadenopathy, mass effects, smooth muscle dysfunction, vasculopathy, neuropathy, inflammation and alterations to the microbiota. Clinical presentations range from non-specific symptoms, such as abdominal pain, diarrhea and malabsorption, to more severe complications, such as protein-losing enteropathy and inflammatory bowel disease. Diagnosis often requires a high level of suspicion, as GI symptoms may precede the diagnosis of the underlying LSD or be misattributed to more common conditions. Management strategies include disease-specific treatments, such as enzyme replacement therapy or substrate reduction therapy, as well as supportive care and targeted interventions for specific GI complications. Conclusions: This review highlights the importance of recognizing and properly managing GI manifestations in LSDs to improve patient outcomes and quality of life. It also emphasizes the need for further research to develop more effective treatments for life-threatening GI complications associated with these rare genetic disorders. Full article
(This article belongs to the Special Issue Research of Inborn Errors of Metabolism)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop