Editorial

<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the <italic>GAA</italic> gene. Pompe disease manifests with a broad spectrum of disease severity, ranging from severe infantile-onset diseases such as hypotonia and hypertrophic cardiomyopathy to late-onset diseases such as myopathy and respiratory compromise. The diagnosis requires demonstration of deficiency of the lysosomal acid alpha-glucosidase enzyme, which can be assayed in dried blood spot or liquid blood samples, together with supportive biomarker tests, and confirmed with molecular genetic analysis. Targeted screening of at-risk populations and universal newborn screening can result in earlier diagnosis and enable earlier treatment initiation, which result in the potential improvement of clinical outcomes. Disease-modifying treatment with enzyme replacement therapy has partially altered the natural history of the disease, but more efficacious novel therapies are under evaluation including second-generation enzyme replacement therapies, molecular chaperones and gene therapy approaches. Long-term survivors with Pompe disease are now manifesting novel aspects of the disease including widespread vascular disease, smooth muscle and central nervous system involvement, and these emerging phenotypes will require additional specific therapeutic approaches.</p></abstract>

Advances in diagnosis and management of Pompe disease

<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Isolated methylmalonic acidurias represent a heterogeneous genetic group of inborn errors of propionate metabolism with the common biochemical hallmark of elevated methylmalonic acid present in tissues and body fluids. It was first described in the 1960s and over the years better understanding of the disease and its presentation, earlier diagnosis, and most importantly advances in treatment have resulted in extended survival of patients. With that an expanding spectrum of complications is emerging which requires attention and regular monitoring to facilitate early intervention and reduce disease burden.</p></abstract>

An expanding spectrum of complications in isolated methylmalonic aciduria

<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment.</p></abstract>

Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations

<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Inherited metabolic disorders (IMDs ) are a rare and diverse group of metabolic conditions mainly caused by enzyme deficiencies, and in some of these, hormonal dysfunction is a relatively common complication. It may present in childhood and subsequently hormonal replacement is required throughout their life. Endocrinopathies can be a presenting symptom of an IMD in adulthood, which should be suspected when associated with multiorgan involvement (neurological, musculoskeletal or liver, etc.). A single IMD can affect any gland with hypogonadism, adrenal insufficiency, diabetes mellitus and thyroid dysfunction being the most common. In some cases, however, it is diagnosed later in their adult life as a secondary complication of previous therapies such as chemotherapy used during Haematopoietic Stem Cell Transplantation (HSCT) in childhood.</p>
<p>The mechanisms of endocrine dysfunction in this group of conditions are not well understood. Regardless, patients require ongoing clinical support from the endocrine, metabolic, bone metabolism and fertility specialists throughout their life.</p>
<p>Hormonal profiling should be part of the routine blood test panel to diagnose asymptomatic endocrine disorders with delayed manifestations. It is also worth considering screening for common hormonal dysfunction when patients exhibit atypical non-IMD related symptoms. In some adult-onset cases presenting with multiple endocrinopathies, the diagnosis of an IMD should be suspected.</p>
<p>Given that new therapies are in development (e.g. gene therapies, stem cell therapies, pharmacological chaperone and substrate reduction therapies), clinicians should be aware of their potential long-term effect on the endocrine system.</p>
</abstract>

Hormonal dysfunction in adult patients affected with inherited metabolic disorders

<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Primary hyperammonaemia is a term to describe an elevation of ammonia in blood or plasma due to a defect within the urea cycle, which is the pathway responsible for ammonia detoxification and arginine biosynthesis. Urea cycle disorders (UCDs) are rare diseases caused by genetic defects affecting any of the six enzymes or two transporters that are directly involved in the urea cycle function.</p>
<p>The clinical situation is variable and largely depends on the time of onset. Newborns who are often affected by hyper-ammonaemic encephalopathy carry a potential risk of severe brain damage, which may lead to death. Outside the neonatal period, symptoms are very unspecific but most often neurological (with wide variability), psychiatric and/or gastrointestinal. Early identification of patients is extremely important to start effective treatment modalities immediately. The acute management includes detoxification of ammonia, which often requires extracorporeal means such as haemodialysis, and the use of intravenous drugs that work as nitrogen scavengers. Long-term management of patients with UCDs consists of a low-protein diet, which needs to be balanced and supplemented to avoid deficiencies of essential amino acids, trace elements or vitamins and the use of nitrogen scavengers.</p>
<p>The reader will find here a brief overview describing the most relevant aspects of the clinical management of UCDs in an attempt to raise awareness for this important group of rare diseases.</p></abstract>

Primary hyperammonaemia: Current diagnostic and therapeutic strategies

<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>This review presents clinical patterns that should trigger homocysteine measurement in blood, as well as the further diagnostic work-up focused on inborn errors of metabolism and disorders of vitamin B12 (cobalamin) absorption and supply. The numerous conditions (e.g. cardiovascular disease, Alzheimer’s disease) for which mild-to-moderate hyperhomocysteinaemia caused by genetic polymorphisms or acquired reasons is considered a risk factor are beyond the scope of this review.</p>
<p>Homocysteine is a sulphur-containing amino acid, which is derived from the amino acid methionine. Homocysteine is either trans-sulphurated to form cystathionine and then cysteine, or re-methylated to methionine. The trans-sulphuration reaction depends on the enzyme cystathionine beta synthase and its cofactor vitamin B6. The re-methylation reaction not only involves the enzymes methionine synthase and methionine synthase reductase but also depends on the cofactor cobalamin and on the provision of methyl groups from the folate cycle. Because the homocysteine–methionine cycle provides for the vast majority of methyl groups in the body, it is central to numerous pathways that depend on methyl group supply, such as creatine synthesis or DNA methylation. Based on this premise, the severity of clinical presentations of inborn errors of metabolism, such as classical homocystinuria or the cobalamin C (cblC) defect, affecting this pathway is unsurprising.</p></abstract>

When to measure plasma homocysteine and how to place it in context: The homocystinurias

<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>The knowledge of causes and pathophysiology of mitochondrial diseases has increased exponentially in the last four decades. Recently, due to the decreased costs of new sequencing technologies (exome and whole genome sequencing), these technologies were applied more and more in clinical routine. The traditional diagnostic approach (‘biopsy first’) of evaluating the patient and his body fluids and the analysis of enzymes of the oxidative phosphorylation system in skeletal muscle with subsequent Sanger sequencing of single candidate genes (‘from function to gene’) were replaced by next generation sequencing techniques with a diagnostic yield of >40%. In this ‘genetics first’ approach, the detection of new candidate genes necessitates often functional evaluations (‘from gene to function’) leading to reverse phenotyping of affected individuals. The new genetic era has offered a clear new challenge for the responsibility of the diagnostic centres: the interplay of clinicians, geneticists and functional biochemists is a prerequisite for a validated diagnosis. It becomes evident that expanded diagnostics builds an interface to research. Only competence centres with high numbers of patients, clinical and diagnostic experience and exchange of knowledge with other comparable units can fulfil all those requirements.</p></abstract>

The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era

<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Over the last two decades, gene therapy has been successfully translated to many rare diseases. The number of clinical trials is rapidly expanding and some gene therapy products have now received market authorisation in the western world. Inherited metabolic diseases (IMD) are orphan diseases frequently associated with a severe debilitating phenotype with limited therapeutic perspective. Gene therapy is progressively becoming a disease-changing therapeutic option for these patients. In this review, we aim to summarise the development of this emerging field detailing the main gene therapy strategies, routes of administration, viral and non-viral vectors and gene editing tools. We discuss the respective advantages and pitfalls of these gene therapy strategies and review their application in IMD, providing examples of clinical trials with lentiviral or adeno-associated viral gene therapy vectors in rare diseases. The rapid development of the field and implementation of gene therapy as a realistic therapeutic option for various IMD in a short term also require a good knowledge and understanding of these technologies from physicians to counsel the patients at best.</p></abstract>

Gene therapy for inherited metabolic diseases

<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec id="j_jmotherandchild.20202402si.2004.000010_s_007">
<h3>Background</h3>
<p>Diagnosis, treatment, and care of inborn errors of metabolism require well organized interdisciplinary teams. Holistic approaches comprise the system of all elements and relations between elements necessary for an optimal function of the system.</p></sec>
<sec id="j_jmotherandchild.20202402si.2004.000010_s_008">
<h3>Methods</h3>
<p>Following the rule “structure follows function” based on scientific, academic, and clinical experience the elements of the system providing diagnosis, treatment, and care for inborn errors of metabolism are defined and described.</p></sec>
<sec id="j_jmotherandchild.20202402si.2004.000010_s_009">
<h3>Results</h3>
<p>A holistic approach to inborn errors of metabolism comprising 10 elements is suggested, established, and controlled by an interdisciplinary metabolic team organized as a disease, and a case management program based on evidence-based guidelines is suggested. Quality assurance and quality control will not only improve the treatment of the individual but also the health system.</p></sec>
<sec id="j_jmotherandchild.20202402si.2004.000010_s_010">
<h3>Conclusion</h3>
<p>The holistic approach is a joint project of the team of health care professionals and the person with a condition, allowing them to see the patient’s individual medical, behavioral, social, legal, and economic context. For practical, technical, and economic reasons this will only be possible in centers caring for a critical number of individuals.</p></sec>
</abstract>

A holistic approach to the patients/Families with inborn errors of metabolism

AHEAD OF PRINT

Volume 28 (2024): Issue 1 (February 2024)

Volume 27 (2023): Issue 1 (June 2023)

Volume 26 (2022): Issue 1 (March 2022)

Volume 25 (2021): Issue 4 (December 2021)

Volume 25 (2021): Issue 3 (September 2021)

Volume 25 (2021): Issue 2 (June 2021)

Volume 25 (2021): Issue 1 (March 2021)

Volume 24 (2020): Issue 4 (December 2020)

Volume 24 (2020): Issue 3 (September 2020)

Volume 24 (2020): Issue 2 (June 2020)

Volume 24 (2020): Issue 1 (July 2020)

Volume 23 (2019): Issue 4 (December 2019)

Volume 23 (2019): Issue 3 (September 2019)

Volume 23 (2019): Issue 2 (June 2019)

Volume 23 (2019): Issue 1 (March 2019)

Volume 22 (2018): Issue 4 (December 2018)

Volume 22 (2018): Issue 3 (September 2018)

Volume 22 (2018): Issue 2 (June 2018)

Volume 22 (2018): Issue 1 (March 2018)

Volume 21 (2017): Issue 4 (December 2017)

Volume 21 (2017): Issue 3 (September 2017)

Volume 21 (2017): Issue 2 (June 2017)

Volume 21 (2017): Issue 1 (March 2017)

Journal of Mother and Child

The history of the title Relatively new only by the title, the Journal of Mother and Child (JMC) has a long tradition of being issued for nearly 25 years. The journal is a direct successor of a former periodical: Developmental Period Medicine/Medycyna Wieku Rozwojowego. The change of the journal title from Developmental Period Medicine to Journal of Mother and Child took place on January 01, 2020. The archive papers under the old name can be found at: journals.indexcopernicus.com.  The Institute of Mother and Child, Warsaw, Poland, has been publishing the journal Medycyna Wieku Rozwojowego (ISSN 1428-345X) since 1997. That title stems from another journal: Problemy Medycyny Wieku Rozwojowego (ISSN 0303-2264), issued by the Institute in the years 1972-1990. Since 1998 until the end of 2019, the English language translation: Developmental Period Medicine (e-ISSN 2354-0060) was used on the title page. Since 2020, the quarterly Developmental Period Medicine changed its English-language title to the one being more to the point, to: Journal of Mother and Child (ISSN 2719-6488; e-ISSN 2719-535X).　  Thus, until December 31, 2019, the journal was titled Medycyna Wieku Rozwojowego (ISSN 1428-345X) / Developmental Period Medicine (e-ISSN 2354-0060), and from January 1, 2020 it is published further under the title Journal of Mother and Child/Medycyna Wieku Rozwojowego (ISSN 2719-6488; e-ISSN 2719-535X). In other words, there is an uninterrupted continuation of issuing of the journal from 1997 to the present. Title modifications on the way reflected more and more focused selection of topics of interest and increasing role of English language in medical sciences. With our international readership visibly broadened over the last years and with the solely English-language contents, we intend to abandon the title’s Polish translation (subheading: ‘Medycyna Wieku Rozwojowego’) in the near future.  The former version of this journal: Medycyna Wieku Rozwojowego / Developmental Period Medicine was indexed in PubMed / Medline and as such was entered into other databases. Journal of Mother and Child / Medycyna Wieku Rozwojowego continues to be indexed in PubMed / Medline.  Cooperating societies:  The title is published in association with the Polish Society of Perinatal Medicine and the Polish Society of Inborn Errors of Metabolism.     Aims &amp; Scope  JMC is a peer reviewed, diamond open access journal dedicated to disseminating basic and applied research related to the health of mother and child. The journal’s ambition is to create a platform for presenting original results from all areas of research studies that aim to improve human maternal, fetal, neonatal, and child health, reflecting the connection between clinical and basic science. We at JMC strongly believe that translational medicine should support interdisciplinary collaboration, which usually results in important scientific papers. We accept original research papers, review articles, editorials, short communications and case studies.  JMC‘s scope is based on a holistic approach towards the patient, covering all medical aspects of health of a mother and her child, including such important life sciences areas as origins of disease, modern diagnostic tools, effective up-to-date treatment, long-term health consequences, nutrition, psychology, as well as social and bioethical issues. Most importantly, we focus on the patient throughout all stages of life, from early years, i.e. prenatal and perinatal periods, through early childhood and childhood to adolescence and adulthood (including maternal health). JMC follows a concept of the systems medicine, looking at the human body as part of an integrated whole which incorporates biomolecular, physiological and environmental interactions.  JMC also encourages submissions of papers pertaining to rare diseases which may be a good model for a study on common disorders and thus revealing novel pathomechanisms and conditions.  Journal metrics  Medycyna Wieku Rozwojowego  Cite Score (2020) 0.9Cite Score (2019) 0.8Ministry of Education and Science (Poland) Journal Rating Scale - Medycyna Wieku Rozwojowego – 20 points (2019-2021)SCImago Journal Rank (2021) 0.154SCImago Journal Rank (2020) 0.215SCImago Journal Rank (2019) 0.210h-index 17  Journal review process  Journal of Mother and Child is double-blind peer reviewed journal.  Article processing charges  The journal has no article processing charges (APCs) and article submission charges.  Archiving  Sciendo archives the contents of this journal in Portico - digital long-term preservation service of scholarly books, journals and collections.  Plagiarism Policy  The editorial board is participating in a growing community of Similarity Check System's users in order to ensure that the content published is original and trustworthy. Similarity Check is a medium that allows for comprehensive manuscripts screening, aimed to eliminate plagiarism and provide a high standard and quality peer-review process.  EDITORIAL POLICIES AND ETHICAL STANDARDS 　  The Institute of Mother and Child, Warsaw, Poland, the owner of the Journal of Mother and Child (JMC) / Medycyna Wieku Rozwojowego is committed to upholding standards of ethical behaviour at all stages of the publication process. Editorial Board of the Journal follow closely the industry associations, such as the Committee on Publication Ethics (COPE), International Committee of Medical Journal Editors (ICJME), World Association of Medical Editors (WAME), Council of Science Editors that set standards and provide guidelines for best practices in order to meet these requirements.  Duties and responsibilities of Authors  The Author(s) is obliged to prepare and send the article in accordance with the requirements set out in the Instructions for Authors. Moreover, the Author(s) is obliged to submit editorial complemented by a statement which will be included (signed and scanned author statement and JMC license agreement – in one document JMC License Agreement available at the web page of the Journal): a statement about the originality of the content of the article (work not yet published anywhere), the integrity of the copyrights of others, no conflict of interest or its application, as well as the superior permission to publish an article in the journal. The Author(s) is obliged to participate in peer review process. The Author(s) is obliged to provide retractions or corrections of mistakes, they also should provide a list of references.The Author(s) is responsible for disclosing all financial and personal relationships that might bias or be seen to bias their work.　Authors may, at any time before accepting the article for publication, withdraw the article by submitting a statement in the electronic system of the Editorial Manager.  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Acknowledgement of sources  Proper acknowledgement of the work of others must always be given. The Author(s) should also cite publications that have been influential in determining the nature of the reported work.  Authorship of a manuscript  Authorship should be limited to those who have made a significant contribution to the conception, design, execution, or interpretation of the reported study. All those who have made significant contributions should be listed as co-authors. Where there are others who have participated in certain substantive aspects of the research project, they should be named in an Acknowledgement section.The corresponding author should ensure that all appropriate co-authors (according to the above definition) and no inappropriate co-authors are included in the author list of the manuscript, and that all co-authors have seen and approved the final version of the paper and have agreed to its submission for publication.  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Detailed information about these criteria can be found in the COPE Report: publicationethics.org/files/2003pdf12_0.pdf  Duties and responsibilities of Reviewers 　  Articles are selected for publication in double-blind selection system and published in open access system. A Reviewer(s) will provide his/her review using the electronic system on the basis of questions prepared for a specific title. It is also possible for a Reviewer(s) to send individual comments to be published in the article content. All judgments and findings in the peer-review process should be objective. Reviewers should have no conflict of interest (they make an appropriate statement before proceeding to review). When it is a legitimate need, Reviewers should point out relevant published work which is not yet cited, and articles reviewed by them should be treated confidentially prior to their publication.  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If needed, other appropriate action should be taken, such as the publication of a retraction or expression of concern.  Involvement and cooperation in investigations  Editors should guard the integrity of the published record by issuing corrections and retractions when needed and pursuing suspected or alleged research and publication misconduct. Editors should pursue reviewer and editorial misconduct. The Editor should take reasonably responsive measures when ethical complaints have been presented concerning a submitted manuscript or published paper.  Publisher’s confirmation 　  In cases of alleged or proven scientific misconduct, fraudulent publication or plagiarism the Publisher, in close collaboration with the Editors, will take all appropriate measures to clarify the situation and to amend the article in question. This includes the prompt publication of an erratum or, in the most severe cases, the complete retraction of the affected work. 

Journal of Mother and Child

Volume 24 (2020): Issue 2 (June 2020)

Editorial

Editorial

Review paper

Advances in diagnosis and management of Pompe disease

An expanding spectrum of complications in isolated methylmalonic aciduria

Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations

Hormonal dysfunction in adult patients affected with inherited metabolic disorders

Primary hyperammonaemia: Current diagnostic and therapeutic strategies

When to measure plasma homocysteine and how to place it in context: The homocystinurias

The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era

Gene therapy for inherited metabolic diseases

A holistic approach to the patients/Families with inborn errors of metabolism

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