Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.2
3.9
Journals
Biomedicines
Special Issues
Inherited Metabolic Disorders: From Bench to Bedside
share announcement

Inherited Metabolic Disorders: From Bench to Bedside

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 18683

Special Issue Editors

Dr. Fatima Macedo

E-Mail Website
Guest Editor
1. Cell Activation and Gene Expression Group, Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Rua Alfredo Allen 208, 4200-135 Porto, Portugal
2. Department of Medical Sciences, University of Aveiro (UA), 3810-193 Aveiro, Portugal
Interests: lysosome; immunology; NKT; fabry disease
Special Issues, Collections and Topics in MDPI journals
Dr. Hugo Rocha

E-Mail Website
Guest Editor
1. Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal
2. Superior School of Health, Polytechnic Institute of Porto, Porto, Portugal
Interests: metabolic disorders; newborn screening; genetic disorders

Special Issue Information

Dear Colleagues,

Inherited metabolic disorders are a growing group of genetic disorders that affect cellular metabolism, resulting in a wide range of clinical signs and symptoms. The dynamics of scientific breakthroughs in this field is unprecedented, from newborn screening to new therapies, and is positively changing patients’ lives.

This Special Issue is devoted to publishing results on any features of inherited metabolic disorders, including newborn screening, diagnosis, basic research on molecular mechanisms, translational studies on novel therapies, and clinical investigations. Review articles on all these aspects are also welcome. The full spectrum of inherited metabolic disorders will be considered, including the lysosomal storage disorders.

This Special Issue will provide a comprehensive view of the diagnostic, molecular and clinical aspects of various inborn errors of metabolism. It comprehensively covers many areas in the field of inherited metabolic disorders, and could be of interest to a broad range of readers including physicians and other health-related professionals, scientists, students, and inherited metabolic disorders communities.

Dr. Fatima Macedo
Dr. Hugo Rocha
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. Biomedicines 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 2600 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 disorders
  • lysosomal storage disorders
  • LSD
  • newborn screening
  • molecular diagnose
  • therapy

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.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (6 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:

Editorial

Jump to: Research, Review

4 pages, 198 KiB  
Editorial
Inherited Metabolic Disorders: From Bench to Bedside
by Tiago Fonseca and M. Fátima Macedo
Biomedicines 2024, 12(1), 174; https://doi.org/10.3390/biomedicines12010174 - 12 Jan 2024
Viewed by 1057
Abstract
Inherited metabolic disorders (IMDs), commonly referred to as inborn errors of metabolism, represent a spectrum of disorders with a defined (or presumed) primary genetic cause which disrupts the normal metabolism of essential molecules in the body [...] Full article
(This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside)

Research

Jump to: Editorial, Review

14 pages, 2015 KiB  
Article
Leukocyte Imbalances in Mucopolysaccharidoses Patients
by Nuno Lopes, Maria L. Maia, Cátia S. Pereira, Inês Mondragão-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patrício Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leão-Teles, Roberto Giugliani, Maria F. Coutinho, Sandra Alves and M. Fátima Macedo
Biomedicines 2023, 11(6), 1699; https://doi.org/10.3390/biomedicines11061699 - 13 Jun 2023
Cited by 2 | Viewed by 1680
Abstract
Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, leading to deficient activity of the enzyme iduronate-2-sulfatase, which [...] Read more.
Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, leading to deficient activity of the enzyme iduronate-2-sulfatase, which causes dermatan and heparan sulfate storage in the lysosomes. In MPS VI, there is dermatan sulfate lysosomal accumulation due to pathogenic mutations in the ARSB gene, leading to arylsulfatase B deficiency. Alterations in the immune system of MPS mouse models have already been described, but data concerning MPSs patients is still scarce. Herein, we study different leukocyte populations in MPS II and VI disease patients. MPS VI, but not MPS II patients, have a decrease percentage of natural killer (NK) cells and monocytes when compared with controls. No alterations were identified in the percentage of T, invariant NKT, and B cells in both groups of MPS disease patients. However, we discovered alterations in the naïve versus memory status of both helper and cytotoxic T cells in MPS VI disease patients compared to control group. Indeed, MPS VI disease patients have a higher frequency of naïve T cells and, consequently, lower memory T cell frequency than control subjects. Altogether, these results reveal MPS VI disease-specific alterations in some leukocyte populations, suggesting that the type of substrate accumulated and/or enzyme deficiency in the lysosome may have a particular effect on the normal cellular composition of the immune system. Full article
(This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside)
►▼ Show Figures

Figure 1

10 pages, 1184 KiB  
Article
N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
by Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták, Filip Květoň, Gábor Beke, Anna Šalingová, Katarína Skalická, Katarína Brennerová, Emília Jančová, Peter Baráth, Ján Mucha and Marek Nemčovič
Biomedicines 2023, 11(2), 580; https://doi.org/10.3390/biomedicines11020580 - 16 Feb 2023
Cited by 2 | Viewed by 2238
Abstract
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive glycoprofile analysis of a male patient with a novel missense variant in the [...] Read more.
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive glycoprofile analysis of a male patient with a novel missense variant in the SLC35A2 gene, coding a galactose transporter that translocates UDP-galactose from the cytosol to the lumen of the endoplasmic reticulum and Golgi apparatus. Isoelectric focusing of serum transferrin, which resulted in a CDG type II pattern, was followed by structural analysis of transferrin and serum N-glycans, as well as the analysis of apolipoprotein CIII O-glycans by mass spectrometry. An abnormal serum N-glycoprofile with significantly increased levels of agalactosylated (Hex3HexNAc4-5 and Hex3HexNAc5Fuc1) and monogalactosylated (Hex4HexNAc4 ± NeuAc1) N-glycans was observed. Additionally, whole exome sequencing and Sanger sequencing revealed de novo hemizygous c.461T > C (p.Leu154Pro) mutation in the SLC35A2 gene. Based on the combination of biochemical, analytical, and genomic approaches, the set of distinctive N-glycan biomarkers was characterized. Potentially, the set of identified aberrant N-glycans can be specific for other variants causing SLC35A2-CDG and can distinguish this disorder from the other CDGs or other defects in the galactose metabolism. Full article
(This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside)
►▼ Show Figures

Figure 1

10 pages, 11312 KiB  
Article
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study
by Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco and Ida Vanessa Doederlein Schwartz
Biomedicines 2023, 11(2), 363; https://doi.org/10.3390/biomedicines11020363 - 26 Jan 2023
Cited by 2 | Viewed by 3269
Abstract
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges from [...] Read more.
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges from neonatal death to mild adult-onset disease with variable hepatic, muscular, neurologic, dermatologic, and cardiac involvement. There is a paucity of literature and clinical and dietary management in GSD IV, and liver transplantation (LT) is described to correct the primary hepatic enzyme defect. Objectives: We herein describe five cases of patients with GSD IV with different ages of onset and outcomes as well as a novel GBE1 variant. Methods: This is a descriptive case series of patients receiving care for GSD IV at Reference Centers for Rare Diseases in Brazil and in the United States of America. Patients were selected based on confirmatory GBE1 genotypes performed after strong clinical suspicion. Results: Pt #1 is a Latin male with the chief complaints of hepatosplenomegaly, failure to thrive, and elevated liver enzymes starting at the age of 5 months. Before LT at the age of two, empirical treatment with corn starch (CS) and high protein therapy was performed with subjective improvement in his overall disposition and liver size. Pt #2 is a 30-month-old Afro-American descent patient with the chief complaints of failure to gain adequate weight, hypotonia, and hepatosplenomegaly at the age of 15 months. Treatment with CS was initiated without overall improvement of the symptoms. Pt #3.1 is a female Latin patient, sister to pt #3.2, with onset of symptoms at the age of 3 months with bloody diarrhea, abdominal distention, and splenomegaly. There was no attempt of treatment with CS. Pt #4 is an 8-year-old male patient of European descent who had his initial evaluation at 12 months, which was remarkable for hepatosplenomegaly, elevated ALT and AST levels, and a moderate dilatation of the left ventricle with normal systolic function that improved after LT. Pt #1, #3.2 and #4 presented with high levels of chitotriosidase. Pt #2 was found to have the novel variant c.826G > C p.(Ala276Pro). Conclusions: GSD IV is a rare disease with different ages of presentation and different cardiac phenotypes, which is associated with high levels of chitotriosidase. Attempts of dietary intervention with CS did not show a clear improvement in our case series. Full article
(This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside)
►▼ Show Figures

Figure 1

Review

Jump to: Editorial, Research

21 pages, 987 KiB  
Review
The Biology of Lysosomes: From Order to Disorder
by Olga Amaral, Mariana Martins, Ana Rita Oliveira, Ana Joana Duarte, Inês Mondragão-Rodrigues and M. Fátima Macedo
Biomedicines 2023, 11(1), 213; https://doi.org/10.3390/biomedicines11010213 - 14 Jan 2023
Cited by 14 | Viewed by 7198
Abstract
Since its discovery in 1955, the understanding of the lysosome has continuously increased. Once considered a mere waste removal system, the lysosome is now recognised as a highly crucial cellular component for signalling and energy metabolism. This notable evolution raises the need for [...] Read more.
Since its discovery in 1955, the understanding of the lysosome has continuously increased. Once considered a mere waste removal system, the lysosome is now recognised as a highly crucial cellular component for signalling and energy metabolism. This notable evolution raises the need for a summarized review of the lysosome’s biology. As such, throughout this article, we will be compiling the current knowledge regarding the lysosome’s biogenesis and functions. The comprehension of this organelle’s inner mechanisms is crucial to perceive how its impairment can give rise to lysosomal disease (LD). In this review, we highlight some examples of LD fine-tuned mechanisms that are already established, as well as others, which are still under investigation. Even though the understanding of the lysosome and its pathologies has expanded through the years, some of its intrinsic molecular aspects remain unknown. In order to illustrate the complexity of the lysosomal diseases we provide a few examples that have challenged the established single gene—single genetic disorder model. As such, we believe there is a strong need for further investigation of the exact abnormalities in the pathological pathways in lysosomal disease. Full article
(This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside)
►▼ Show Figures

Figure 1

13 pages, 498 KiB  
Review
Anderson–Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?
by Marialuisa Zedde, Rosario Pascarella, Francesco Cavallieri, Francesca Romana Pezzella, Sara Grisanti, Alessio Di Fonzo and Franco Valzania
Biomedicines 2022, 10(12), 3132; https://doi.org/10.3390/biomedicines10123132 - 5 Dec 2022
Cited by 3 | Viewed by 2309
Abstract
Anderson–Fabry disease (AFD) is an inherited lysosomal storage disorder characterized by a composite and multisystemic clinical phenotype and frequent involvement of the central nervous system (CNS). Research in this area has largely focused on the cerebrovascular manifestations of the disease, and very little [...] Read more.
Anderson–Fabry disease (AFD) is an inherited lysosomal storage disorder characterized by a composite and multisystemic clinical phenotype and frequent involvement of the central nervous system (CNS). Research in this area has largely focused on the cerebrovascular manifestations of the disease, and very little has been described about further neurological manifestations, which are known in other lysosomal diseases, such as Gaucher disease. In particular, a clinical and neuroimaging phenotype suggesting neurodegeneration as a putative mechanism has never been fully described for AFD, but the increased survival of affected patients with early diagnosis and the possibility of treatment have given rise to some isolated reports in the literature on the association of AFD with a clinical phenotype of Parkinson disease (PD). The data are currently scarce, but it is possible to hypothesize the molecular mechanisms of cell damage that support this association; this topic is worthy of further study in particular in relation to the therapeutic possibilities, which have significantly modified the natural history of the disease but which are not specifically dedicated to the CNS. In this review, the molecular mechanisms underlying this association will be proposed, and the available data with implications for future research and treatment will be rewritten. Full article
(This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside)
►▼ Show Figures

Graphical abstract

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-6
Back to TopTop