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Children
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Diagnosis and Treatment in Pediatric Inborn Errors of Metabolism: From...
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Diagnosis and Treatment in Pediatric Inborn Errors of Metabolism: From Bench to Bedside

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Endocrinology & Diabetes".

Deadline for manuscript submissions: closed (5 March 2025) | Viewed by 5177

Special Issue Editors

Dr. Dana-Teodora Anton-Păduraru

E-Mail Website
Guest Editor
Department of Mother and Child Medicine, Discipline of Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
Interests: nutritional diseases; inborn errors of metabolism (IEM); clinic nutrition; cystic fibrosis
Special Issues, Collections and Topics in MDPI journals
Dr. Romana Vulturar

E-Mail Website
Co-Guest Editor
Department of Molecular Sciences, "Iuliu Hatieganu" University of Medicine and Pharmacy from Cluj-Napoca, 6 Pasteur Street, 400349 Cluj-Napoca, Romania
Interests: inborn errors of metabolism (IEM); diagnostics in metabolic diseases; molecular mechanisms and phenotype–genotype correlations; biomarkers; rare diseases (RDs); next-generation sequencing (NGS) in IEM
Dr. Adina Chiș

E-Mail Website
Co-Guest Editor
Department of Molecular Sciences, "Iuliu Hatieganu" University of Medicine and Pharmacy from Cluj-Napoca, 6 Pasteur Street, 400349 Cluj-Napoca, Romania
Interests: inborn errors of metabolism (IEM), diagnostics in metabolic diseases; biomarkers; rare diseases (RDs); next-generation sequencing (NGS) in IEM

Special Issue Information

Dear Colleagues,

Inborn Errors of Metabolism (IEMs), a heterogeneous group of over 1400 diseases, are generally rare, but complex and challenging conditions. Pediatric IEMs pose unique difficulties due to their intricate genetic origins and diverse clinical presentations. We invite the colleagues involved in the management of children with IEMs to present their experience regarding newborn screening, clinical insights, diagnostic challenges (including NGS), therapeutic interventions and adherence, the relationship with the gut microbiome, vitamins and minerals status, multidisciplinary strategies and cutting-edge research that advance our understanding of these complex disorders. Besides, we include topics such as psychological problems in children and their families, national health programs for IEMs, telehealth, and the impact of COVID-19 pandemic on these diseases. This special issue aims to catalyze improvements in accurate diagnosis and tailored treatment plans for affected children. This Special Issue welcomes submissions of original research papers, meta-analyses, systematic reviews, and expert opinions.

Dr. Dana-Teodora Anton-Păduraru
Dr. Romana Vulturar
Dr. Adina Chiș
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. 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

  • inborn metabolic diseases
  • NGS (next generation sequencing)
  • biomarkers
  • epidemiology
  • newborn screening
  • tandem mass spectrometry
  • metabolomics
  • nutritional status
  • nutritional (dietary) therapy
  • management
  • gene therapy

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Published Papers (2 papers)

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Review

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30 pages, 412 KiB  
Review
Current Insights into Nutritional Management of Phenylketonuria: An Update for Children and Adolescents
by Dana-Teodora Anton-Păduraru, Felicia Trofin, Adina Chis, Lucia Maria Sur, Violeta Streangă, Dana Elena Mîndru, Olivia Simona Dorneanu, Diana Păduraru, Eduard Vasile Nastase and Romana Vulturar
Children 2025, 12(2), 199; https://doi.org/10.3390/children12020199 - 7 Feb 2025
Viewed by 2204
Abstract
Considering the fact that even today in the 21st century, diet is the basis of the treatment in phenylketonuria (PKU), this review aims to provide a comprehensive analysis of existing current data from the last 15 years on dietary treatment and its impact [...] Read more.
Considering the fact that even today in the 21st century, diet is the basis of the treatment in phenylketonuria (PKU), this review aims to provide a comprehensive analysis of existing current data from the last 15 years on dietary treatment and its impact on nutritional status and quality of life to identify gaps in knowledge and offer insights into future directions for optimizing nutritional care in PKU. Dietary treatment for PKU has evolved over the years, and in order to optimize and standardize the care, European PKU experts developed guidelines useful for both professionals and patients and their parents. The current literature underscores the essential role of diet in both managing PKU and preventing obesity, but malnutrition in these children is a complex issue that necessitates a multifaceted approach. The literature emphasizes the crucial role of dietary adherence in managing PKU. Advancements in therapy offer the potential to reduce the challenges associated with dietary phenylalanine (Phe) restrictions. Maintaining adequate levels of essential nutrients in children with PKU and monitoring trace element intake and micronutrient levels are vital for preventing deficiencies and ensuring optimal growth and development. Overall, the literature highlights the importance of personalized treatment strategies. Conclusions. Effective management of PKU necessitates strict dietary control and personalized treatment to maintain optimal blood Phe levels. Continuous monito-ring, nutritional education, and adherence to dietary recommendations are critical components in achieving the best patient outcomes. Future studies should also explore innovative therapeutic modalities, including gene therapy and novel dietary strategies that consider the gut–brain axis, to enhance the quality of life and mental health for individuals with PKU. Full article
(This article belongs to the Special Issue Diagnosis and Treatment in Pediatric Inborn Errors of Metabolism: From Bench to Bedside)

Other

Jump to: Review

9 pages, 445 KiB  
Case Report
Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report
by Francesco Baldo, Enrico Drago, Daniela Nisticò, Silvia Buratti, Michaela Calvillo, Concetta Micalizzi, Maria Cristina Schiaffino and Mohamad Maghnie
Children 2023, 10(10), 1602; https://doi.org/10.3390/children10101602 - 26 Sep 2023
Cited by 4 | Viewed by 2407
Abstract
Lactic acidosis is characterized by an excessive production of lactic acid or by its impaired clearance. Thiamine deficiency is an uncommon cause of lactic acidosis, especially in countries where malnutrition is rare. We describe the case of a 5-year-old boy who presented with [...] Read more.
Lactic acidosis is characterized by an excessive production of lactic acid or by its impaired clearance. Thiamine deficiency is an uncommon cause of lactic acidosis, especially in countries where malnutrition is rare. We describe the case of a 5-year-old boy who presented with a central nervous system relapse of acute lymphoblastic leukemia. During the chemotherapy regimen, the patient developed drug-induced pancreatitis with paralytic ileus requiring prolonged glucosaline solution infusion. In the following days, severe lactic acidosis (pH 7.0, lactates 253 mg/dL, HCO3- 8 mmol/L) was detected, associated with hypoglycemia (42 mg/dL) and laboratory signs of acute liver injury. Due to the persistent hypoglycemia, the dextrose infusion was gradually increased. Lactates, however, continued to raise, so continuous venovenous hemodiafiltration was started. While lactates initially decreased, 12 h after CVVHDF suspension, they started to raise again. Assuming that it could have been caused by mitochondrial dysfunction due to vitamin deficiency after prolonged fasting and feeding difficulties, parenteral nutrition and thiamine were administered, resulting in a progressive reduction in lactates, with the normalization of pH during the next few hours. In the presence of acute and progressive lactic acidosis in a long-term hospitalized patient, thiamine deficiency should be carefully considered and managed as early as possible. Full article
(This article belongs to the Special Issue Diagnosis and Treatment in Pediatric Inborn Errors of Metabolism: From Bench to Bedside)
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