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Children
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Molecular Sciences of Pediatric Metabolism
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Molecular Sciences of Pediatric Metabolism

A special issue of Children (ISSN 2227-9067).

Deadline for manuscript submissions: closed (5 January 2024) | Viewed by 3620

Special Issue Editor

Dr. Berna Seker Yilmaz

E-Mail Website
Guest Editor
UCL Great Ormond Street Institute of Child Health, London, UK
Interests: inherited metabolic diseases; genetics and genomics

Special Issue Information

Dear Colleagues,

Metabolism refers to all the complex biochemical processes occurring in living organisms to maintain vital cellular activities. These processes are organized into specific metabolic pathways. Inherited metabolic disorders (IMDs) are a phenotypically and genetically heterogeneous group of genetic disorders resulting from an enzyme defect in metabolic pathways affecting proteins, fats or carbohydrates or an impaired organelle function that is necessary for the provision of energy or cell homeostasis. Most metabolic disorders present in children, although in milder forms, remain undetected until adulthood.

Recent progress in the last century, including genome sequencing and omics technologies, have allowed identification of disease-causing mechanisms and the discovery of numerous single-gene defects and many unexpected phenotypes. An improved understanding of pediatric metabolism is also promising for the development of disease-changing treatments such as gene therapy. 

We invite all scientists working in the field of IMDs to participate in this Special Issue. Original research articles, reviews and shorter perspective articles on molecular mechanisms of IMDs as well as clinical investigations, translational studies and novel therapies are welcome. The full spectrum of inherited metabolic disorders will be considered, including lysosomal storage disorders.

Dr. Berna Seker Yilmaz
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. Children 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 2400 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

  • inherited metabolic diseases
  • lysosomal storage disorders
  • molecular science
  • newborn screening
  • omics
  • genetic counselling
  • genetic screening
  • prenatal diagnosis
  • epigenetics
  • gene therapy

Published Papers (2 papers)

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Research

11 pages, 635 KiB  
Article
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
by Clelia Cipolla, Linda Sessa, Giulia Rotunno, Giorgio Sodero, Francesco Proli, Chiara Veredice, Valentina Giorgio, Chiara Leoni, Jessica Rosati, Domenico Limongelli, Eliza Kuczynska, Elisabetta Sforza, Valentina Trevisan, Donato Rigante, Giuseppe Zampino and Roberta Onesimo
Children 2023, 10(9), 1451; https://doi.org/10.3390/children10091451 - 25 Aug 2023
Viewed by 1063
Abstract
Background: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the RAI1 gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterolemia has been described in SMS, and [...] Read more.
Background: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the RAI1 gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. Hypercholesterolemia has been described in SMS, and obesity is also commonly found. Aim: To describe and characterize the metabolic phenotype of a cohort of SMS patients with an age range of 2.9–32.4 years and to evaluate any correlations between their body mass index and serum lipids, glycated hemoglobin (HbA1c), and basal insulin levels. Results: Seven/thirty-five patients had high values of both total cholesterol and low-density lipoprotein cholesterol; 3/35 had high values of triglycerides; none of the patients with RAI1 variants presented dyslipidemia. No patients had abnormal fasting glucose levels. Three/thirty-five patients had HbA1c in the prediabetes range. Ten/twenty-two patients with 17p11.2 deletion and 2/3 with RAI1 variants had increased insulin basal levels. Three/twenty-three patients with the 17p11.2 deletion had prediabetes. Conclusion: Our investigation suggests that SMS ‘deleted’ patients may show a dyslipidemic pattern, while SMS ‘mutated’ patients are more likely to develop early-onset obesity along with hyperinsulinism. Full article
(This article belongs to the Special Issue Molecular Sciences of Pediatric Metabolism)
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17 pages, 4504 KiB  
Article
Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
by Banu Kadıoğlu Yılmaz and Ayşe Hümeyra Akgül
Children 2023, 10(7), 1205; https://doi.org/10.3390/children10071205 - 12 Jul 2023
Cited by 1 | Viewed by 1846
Abstract
Bibliometric studies on inherited metabolic diseases (IMDs) do not exist in the literature. Therefore, our research aims to conduct a bibliometric study to determine the current status, trending topics, and missing points of publications on IMDs. Between 1968 and 2023, we conducted a [...] Read more.
Bibliometric studies on inherited metabolic diseases (IMDs) do not exist in the literature. Therefore, our research aims to conduct a bibliometric study to determine the current status, trending topics, and missing points of publications on IMDs. Between 1968 and 2023, we conducted a literature search with the keyword “inherited metabolic disease” in the SCOPUS database. We included research articles in medicine written in English and published in the final section. We created our data pool using VOSviewer, SciMAT, and Rstudio software programs for the bibliometric parameters of the articles that met the inclusion criteria. We performed a bibliometric analysis of the data with the R package “bibliometrix” and BibExcel programs. We included 2702 research articles published on IMDs. The top three countries that have written the most articles in this field are the USA (n = 501), the United Kingdom (n = 182), and China (n = 172). The most preferred keywords by the authors were: newborn screening (n = 54), mutation (n = 43), phenylketonuria (n = 42), children (n = 35), genetics (n = 34), and maple syrup urine disease (n = 32). Trending topics were osteoporosis, computed tomography, bone marrow transplantation in the early years of the study, chronic kidney disease, urea cycle disorders, next-generation sequencing, newborn screening, and familial hypercholesterolemia in the final years of the study. This study provides clinicians with a new perspective, showing that molecular and genetic studies of inherited metabolic diseases will play an essential role in diagnosis and treatment in the future. Full article
(This article belongs to the Special Issue Molecular Sciences of Pediatric Metabolism)
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