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Diagnostics
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Diagnosis and Treatment of Pediatric Metabolic Diseases
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Diagnosis and Treatment of Pediatric Metabolic Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 September 2020) | Viewed by 16004

Special Issue Editor

Prof. Dr. Anna Tylki-Szymanska

E-Mail Website
Guest Editor
Department of Pediatric Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04 730 Warsaw, Poland
Interests: inborn errors of metabolism (IEM); rare diseases (RDs); peroxisomal disorders; lysosomal diseases; congenital disorders of glycosylation (CDG); mitochondrial diseases; diagnostics in metabolic diseases; newborn screening; next-generation sequencing (NGS) in IEM; biomarkers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Diagnostics is launching a Special Issue focused on congenital metabolic diseases in children. Inborn errors of metabolism is a vast and very diverse field, and we would like to encompass this diversity in this Special Issue of Diagnostics.

Interest in rare diseases has increased significantly in recent decades, with the appearance of sensitive, high-throughput diagnostic methods along with new therapies. This topic has become the center of interest for scientists, biochemists, geneticists and, above all, pediatricians.

On behalf of the Editorial Office, I would like to invite you to contribute your research papers, review articles, and interesting case reports concerning diagnostic methods for peer review and possible publication.

Young researchers are welcome to present their interesting achievements, pediatricians to share their experience and insights garnered from clinical practice; all are invited to present new metabolic disorders identified by NGS. We encourage you to share the usefulness of new diagnostic methods as well as potential pitfalls in the diagnostics of IEM. In addition, welcome reports of long-term follow-up of IEM patients as well as their management and care as ensured by multidisciplinary teams of physicians and other health providers.

Prof. Dr. Anna Tylki-Szymanska
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. Diagnostics is an international peer-reviewed open access semimonthly 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

  • inborn errors of metabolism (IEM)
  • rare diseases (RDs)
  • peroxisomal disorders
  • lysosomal diseases
  • congenital disorders of glycosylation (CDG)
  • mitochondrial diseases
  • diagnostics in metabolic diseases
  • newborn screening
  • next-generation sequencing (NGS) in IEM
  • biomarkers

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Published Papers (4 papers)

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Research

12 pages, 279 KiB  
Article
Univariate Analysis of Short-Chain Fatty Acids Related to Sudden Infant Death Syndrome
by Carlos E. Galván-Tejada, Karen E. Villagrana-Bañuelos, Laura A. Zanella-Calzada, Arturo Moreno-Báez, Huizilopoztli Luna-García, Jose M. Celaya-Padilla, Jorge I. Galván-Tejada and Hamurabi Gamboa-Rosales
Diagnostics 2020, 10(11), 896; https://doi.org/10.3390/diagnostics10110896 - 2 Nov 2020
Cited by 6 | Viewed by 2952
Abstract
Sudden infant death syndrome (SIDS) is defined as the death of a child under one year of age, during sleep, without apparent cause, after exhaustive investigation, so it is a diagnosis of exclusion. SIDS is the principal cause of death in industrialized countries. [...] Read more.
Sudden infant death syndrome (SIDS) is defined as the death of a child under one year of age, during sleep, without apparent cause, after exhaustive investigation, so it is a diagnosis of exclusion. SIDS is the principal cause of death in industrialized countries. Inborn errors of metabolism (IEM) have been related to SIDS. These errors are a group of conditions characterized by the accumulation of toxic substances usually produced by an enzyme defect and there are thousands of them and included are the disorders of the β-oxidation cycle, similarly to what can affect the metabolism of different types of fatty acid chain (within these, short chain fatty acids (SCFAs)). In this work, an analysis of postmortem SCFAs profiles of children who died due to SIDS is proposed. Initially, a set of features containing SCFAs information, obtained from the NIH Common Fund’s National Metabolomics Data Repository (NMDR) is submitted to an univariate analysis, developing a model based on the relationship between each feature and the binary output (death due to SIDS or not), obtaining 11 univariate models. Then, each model is validated, calculating their receiver operating characteristic curve (ROC curve) and area under the ROC curve (AUC) value. For those features whose models presented an AUC value higher than 0.650, a new multivariate model is constructed, in order to validate its behavior in comparison to the univariate models. In addition, a comparison between this multivariate model and a model developed based on the whole set of features is finally performed. From the results, it can be observed that each SCFA which comprises of the SFCAs profile, has a relationship with SIDS and could help in risk identification. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Pediatric Metabolic Diseases)
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9 pages, 412 KiB  
Article
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria
by Edyta Szymańska, Aleksandra Jezela-Stanek, Anna Bogdańska, Dariusz Rokicki, Ewa Ehmke vel Emczyńska-Seliga, Magdalena Pajdowska, Elżbieta Ciara and Anna Tylki-Szymańska
Diagnostics 2020, 10(10), 738; https://doi.org/10.3390/diagnostics10100738 - 23 Sep 2020
Cited by 9 | Viewed by 3545
Abstract
Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. The disease has various courses, from severe ones manifesting in newborns to the intermittent form with first manifestation in children and adults. The aim of this [...] Read more.
Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. The disease has various courses, from severe ones manifesting in newborns to the intermittent form with first manifestation in children and adults. The aim of this study was to analyze clinical and neurological outcomes in Polish patients with IVA. Ten patients diagnosed and treated in The Children’s Memorial Health Institute were included in the study. The diagnosis was based on tandem MS (increased level of C5 acylcarnitine) and urine GCMS (increased isovalerylglycine, and 3-hydroxyisovaleric acid). Molecular analysis was performed in seven patients (70%) leading to the detection of pathogenic variants in the IVD gene in all of them. A retrospective analysis of patients’ medical records included: demographics, symptoms at diagnosis, medical management, and biochemical and clinical outcomes following therapy. The median follow-up time (median; Q1–Q2) was 2.5 years (1.5–9.0) for newborn screening (NBS) and family screening (FS) children, and 17 years (5.0–20) for symptomatic patients. Five patients were in a good clinical state, four children presented mild neurological symptoms, and one—severely delayed child. In the IVD gene, five known and two novel variants (p.466C>G, c.1132G>A) were identified. Molecular analysis was performed in seven patients leading to identification of biallelic pathogenic variants in the IVD gene in all of them. We can conclude that long-term clinical and neurological outcomes of patients with IVA were satisfactory as a result of an early diagnosis and proper management. Although early treatment did not prevent decompensations, they were milder in these patients. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Pediatric Metabolic Diseases)
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11 pages, 1505 KiB  
Article
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
by Tomaž Rozmarič, Goran Mitulović, Vassiliki Konstantopoulou, Bernadette Goeschl, Martina Huemer, Barbara Plecko, Johannes Spenger, Saskia B. Wortmann, Sabine Scholl-Bürgi, Daniela Karall, Susanne Greber-Platzer and Maximilian Zeyda
Diagnostics 2020, 10(9), 626; https://doi.org/10.3390/diagnostics10090626 - 24 Aug 2020
Cited by 13 | Viewed by 5056
Abstract
Early diagnostics and treatment of vitamin B12 deficiency (B12D) in infants, mainly maternally conditioned, is crucial in preventing possible developmental delay and neurological deficits. Currently, B12D is rarely listed in regular newborn screening panels and mostly regarded as an incidental finding. The aim [...] Read more.
Early diagnostics and treatment of vitamin B12 deficiency (B12D) in infants, mainly maternally conditioned, is crucial in preventing possible developmental delay and neurological deficits. Currently, B12D is rarely listed in regular newborn screening panels and mostly regarded as an incidental finding. The aim of this study was to evaluate a targeted newborn screening strategy for detection of suspected B12D. A decision strategy based on the primary parameters propionylcarnitine and methionine for selection of samples to be analyzed for total homocysteine by mass spectrometry was established. Therefore, 93,116 newborns were initially screened. Concentrations of vitamin B12 and holotranscobalamin in serum were obtained from clinical follow-up analyses of recalled newborns. Moreover, an extremely sensitive mass spectrometric method to quantify methylmalonic acid from the dried blood spots was developed. Overall, 0.15% of newborns were screened positive for suspected B12D, of which 64% had vitamin B12 concentrations below 148 pM. We also determined a cutoff value for methylmalonic acid in dried blood spots indicative for B12D in infants. Overall, we calculated a prevalence of 92/100,000 for suspected B12D in the Austrian newborns. In conclusion, we present a screening algorithm including second-tier measurement of total homocysteine that allows detection of low B12 serum concentrations with a high detection rate and low false-positive rate. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Pediatric Metabolic Diseases)
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11 pages, 238 KiB  
Article
Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience
by Edyta Szymańska, Patryk Lipiński, Dariusz Rokicki, Janusz Książyk and Anna Tylki-Szymańska
Diagnostics 2020, 10(5), 297; https://doi.org/10.3390/diagnostics10050297 - 13 May 2020
Cited by 14 | Viewed by 3739
Abstract
Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and [...] Read more.
Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and IX—from childhood to adulthood, managed by one referral center. Patients and methods: Thirty adult patients with hepatic GSD were included in the study. A retrospective chart review of patients’ medical records has been performed. Results: During the long-term follow-up, the most frequent complications observed in a group of 14 GSD I patients were nephropathy with blood hypertension (10/14), hyperuricemia (8/14), and development of hepatocellular adenomas (HCA; 5/14). All individuals but four presented with normal height. Two patients with GSD Ib suffered from inflammatory bowel disease (IBD). Nine (64%) GSD I patients were in balanced metabolic condition at the age of 18. Regarding GSD III/VI/IX, the most frequent complication was short stature observed in 5 out of 16 patients. All patients but one with GSD VI were in balanced metabolic condition at the age of 18. Conclusion: The long-term outcomes of patients with GSD depend mainly on proper (adjusted to each type of GSD) dietary management and patient compliance. However, in GSD type I, even proper management does not eliminate all long-term complications in adulthood. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Pediatric Metabolic Diseases)
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