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Children
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Metabolic and Nutritional Diseases in Children
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Metabolic and Nutritional Diseases in Children

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

Deadline for manuscript submissions: closed (10 May 2024) | Viewed by 22735

Special Issue Editor

Dr. Corina Pienar

E-Mail Website
Guest Editor
Department of Pediatrics, 2nd Pediatrics Clinic, 'Victor Babes' University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania
Interests: pediatric gastroenterology; nutrition; metabolic diseases; liver elastography

Special Issue Information

Dear Colleagues,

It is my great pleasure to invite you to contribute to this Special Issue of Children on “Metabolic and Nutritional Diseases in Children”.

In pediatrics, metabolic and nutritional diseases encompass a broad group of pathological entities. From the most common food protein allergies and disaccharide intolerances to the rarest metabolic diseases, this group of pediatric illnesses negatively impacts the health, growth, and quality of life of affected children.

In recent decades, advances in molecular testing, endoscopic procedures, and imaging have led to increased awareness and diagnosis of metabolic and nutritional diseases. Still, their management remains a challenge, bringing together a team of experts, such as pediatricians, pediatric gastroenterologists, endocrinologists, dieticians, geneticists, and imagists.

This Special Issue of Children, “Metabolic and Nutritional Diseases in Children”, aims to include research that will advance current knowledge in the field of metabolic and nutritional diseases. The papers need to explore diagnostic challenges, present new techniques, or validate existing tools that assess metabolic and nutritional diseases and provide new insights into how therapeutic interventions can improve health, growth, and quality of life in children with metabolic and nutritional diseases.

Dr. Corina Pienar
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

  • pediatric nutrition
  • metabolic diseases
  • cystic fibrosis
  • obesity
  • celiac disease
  • disaccharide intolerances
  • food protein allergies
  • inflammatory bowel disease
  • diabetes mellitus

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Published Papers (10 papers)

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Research

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12 pages, 853 KiB  
Article
Feasibility of Achieving Nutritional Adequacy in Critically Ill Children with Critical Neurological Illnesses (CNIs)?—A Quaternary Hospital Experience
by Marwa Mansour, Nicole Knebusch, Jennifer Daughtry, Thomas P. Fogarty, Fong Wilson Lam, Renan A. Orellana, Yi-Chen Lai, Jennifer Erklauer and Jorge A. Coss-Bu
Children 2024, 11(6), 711; https://doi.org/10.3390/children11060711 - 9 Jun 2024
Viewed by 800
Abstract
The literature on the nutritional needs and outcomes of critically ill children is scarce, especially on those with critical neurological illnesses (CNIs). Current evidence shows a lower mortality in patients who achieve two-thirds of their nutritional needs during the first week of pediatric [...] Read more.
The literature on the nutritional needs and outcomes of critically ill children is scarce, especially on those with critical neurological illnesses (CNIs). Current evidence shows a lower mortality in patients who achieve two-thirds of their nutritional needs during the first week of pediatric intensive care unit (PICU) admission. We hypothesized that achieving 60% of the recommended dietary intake during the first week of a PICU stay is not feasible in patients with CNI. We designed an observational retrospective cohort study where we included all index admissions to the PICU in our institution of children (1 month to 18 years) with CNI from January 2018 to June 2021. We collected patient demographics, anthropometric measures, and caloric and protein intake (enteral and parenteral) information during the first week of PICU admission. Goal adequacy for calories and protein was defined as [(intake/recommended) × 100] ≥ 60%. A total of 1112 patients were included in the nutrition assessment, 12% of whom were underweight (weight for age z score < −2). Of this group, 180 met the criteria for nutrition support evaluation. On the third day of admission, 50% of the patients < 2 years achieved caloric and protein goal adequacy, compared to 25% of patients > 2 years, with p-values of 0.0003 and 0.0004, respectively. Among the underweight patients, 60% achieved both caloric and protein goal adequacy by day 3 vs. 30% of non-underweight patients with p-values of 0.0006 and 0.002, respectively. The results show that achieving 60% of the recommended dietary intake by days 5 and 7 of admission was feasible in more than half of the patients in this cohort. Additionally, children who were evaluated by a clinical dietician during the first 48 h of PICU admission reached higher nutrition adequacy. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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12 pages, 1191 KiB  
Article
An In-Depth Look at Nutrition Support and Adequacy for Critically Ill Children with Organ Dysfunction
by Nicole Knebusch, Paola Hong-Zhu, Marwa Mansour, Jennifer N. Daughtry, Thomas P. Fogarty, Fernando Stein and Jorge A. Coss-Bu
Children 2024, 11(6), 709; https://doi.org/10.3390/children11060709 - 8 Jun 2024
Viewed by 1174
Abstract
Patients admitted to a pediatric intensive care unit (PICU) need individualized nutrition support that is tailored to their particular disease severity, nutritional status, and therapeutic interventions. We aim to evaluate how calories and proteins are provided during the first seven days of hospitalization [...] Read more.
Patients admitted to a pediatric intensive care unit (PICU) need individualized nutrition support that is tailored to their particular disease severity, nutritional status, and therapeutic interventions. We aim to evaluate how calories and proteins are provided during the first seven days of hospitalization for children in critical condition with organ dysfunction (OD). A single-center retrospective cohort study of children aged 2–18 years, mechanically ventilated > 48 h, and admitted > 7 days to a PICU from 2016 to 2017 was carried out. Nutrition support included enteral and parenteral nutrition. We calculated scores for the Pediatric Sequential Organ Failure Assessment (pSOFA) on days 1 and 3 of admission, with OD defined as a score > 5. Of 4199 patient admissions, 164 children were included. The prevalence of OD for days 1 and 3 was 79.3% and 78.7%, respectively. On day 3, when pSOFA scores trended upward, decreased, or remained unchanged, median (IQR) caloric intake was 0 (0–15), 9.2 (0–25), and 22 (1–43) kcal/kg/day, respectively (p = 0.0032); when pSOFA scores trended upward, decreased, or remained unchanged, protein intake was 0 (0–0.64), 0.44 (0–1.25), and 0.66 (0.04–1.67) g/kg/day, respectively (p = 0.0023). Organ dysfunction was prevalent through the first 72 h of a PICU stay. When the pSOFA scores trended downward or remained unchanged, caloric and protein intakes were higher than those that trended upward. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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14 pages, 3825 KiB  
Article
Genetic Predisposition to Primary Lactose Intolerance Does Not Influence Dairy Intake and Health-Related Quality of Life in Romanian Children: A Hospital-Based Cross-Sectional Study
by Corina Pienar, Liviu Pop, Marilena Lăzărescu, Radmila Costăchescu, Mirela Mogoi, Ruxandra Mare and Edward Șeclăman
Children 2023, 10(6), 1075; https://doi.org/10.3390/children10061075 - 18 Jun 2023
Viewed by 2251
Abstract
Background: Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in life. The evidence supporting a [...] Read more.
Background: Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in life. The evidence supporting a link between PLI, dairy intake, and quality of life (QoL) is limited in children. Aim: This study investigates the link between LCT polymorphisms and suggestive symptoms and the influence of the genetic predisposition to PLI on dairy intake and QoL in Romanian children. Materials and methods: We recruited consecutive children evaluated in our ambulatory clinic. We asked all participants to complete a visual-analog symptoms scale, a dairy intake, and a QoL questionnaire. We used strip genotyping to identify genetic predisposition to PLI. Results: 51.7% of children had a CC genotype, and 34.5% also had a GG genotype. Most children reported no or mild symptoms. Dairy intake and QoL were similar across study groups. Conclusions: Our study shows that genetic predisposition does not necessarily assume the presence of specific symptoms. Genetic predisposition to PLI did not lead to dairy avoidance, nor did it negatively influence our children’s QoL. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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14 pages, 4918 KiB  
Article
Body Adiposity Partially Mediates the Association between FTO rs9939609 and Lower Adiponectin Levels in Chilean Children
by Carolina Ochoa-Rosales, Lorena Mardones, Marcelo Villagrán, Claudio Aguayo, Miquel Martorell, Carlos Celis-Morales and Natalia Ulloa
Children 2023, 10(3), 426; https://doi.org/10.3390/children10030426 - 22 Feb 2023
Viewed by 3525
Abstract
Children carrying the minor allele ‘A’ at the fat mass and obesity-associated protein (FTO) gene have higher obesity prevalence. We examined the link between FTO rs9939609 polymorphism and plasma adiponectin and the mediating role of body adiposity, in a cross-sectional study comprising [...] Read more.
Children carrying the minor allele ‘A’ at the fat mass and obesity-associated protein (FTO) gene have higher obesity prevalence. We examined the link between FTO rs9939609 polymorphism and plasma adiponectin and the mediating role of body adiposity, in a cross-sectional study comprising 323 children aged 6–11 years. Adiponectin and FTO genotypes were assessed using a commercial kit and a real-time polymerase chain reaction with high-resolution melting analysis, respectively. Body adiposity included body mass index z-score, body fat percentage and waist-to-hip ratio. To investigate adiponectin (outcome) associations with FTO and adiposity, linear regressions were implemented in additive models and across genotype categories, adjusting for sex, age and Tanner’s stage. Using mediation analysis, we determined the proportion of the association adiponectin-FTO mediated by body adiposity. Lower adiponectin concentrations were associated with one additional risk allele (βadditive = −0.075 log-μg/mL [−0.124; −0.025]), a homozygous risk genotype (βAA/TT = −0.150 [−0.253; −0.048]) and a higher body mass index z-score (β = −0.130 [−0.176; −0.085]). Similar results were obtained for body fat percentage and waist-to-hip ratio. Body adiposity may mediate up to 29.8% of the FTO-adiponectin association. In conclusion, FTO rs9939609-related differences in body adiposity may partially explain lower adiponectin concentrations. Further studies need to disentangle the biological pathways independent from body adiposity. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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11 pages, 281 KiB  
Article
Factors Associated with Breastfeeding Initiation and Duration in Greece: Data from the Hellenic National Nutrition and Health Survey
by Efthimia Spyrakou, Emmanuella Magriplis, Vassiliki Benetou and Antonis Zampelas
Children 2022, 9(11), 1773; https://doi.org/10.3390/children9111773 - 18 Nov 2022
Cited by 2 | Viewed by 1990
Abstract
Despite its well-documented benefits, breastfeeding rates and duration worldwide do not meet the recommended goals set by the World Health Organization. Data on infant feeding, socio-demographic, lifestyle and perinatal factors were used from 490 mothers (and 958 children), participants at the Hellenic National [...] Read more.
Despite its well-documented benefits, breastfeeding rates and duration worldwide do not meet the recommended goals set by the World Health Organization. Data on infant feeding, socio-demographic, lifestyle and perinatal factors were used from 490 mothers (and 958 children), participants at the Hellenic National Nutrition and Health Survey between 2013–2015. Clustered multiple logistic regression and multilevel mixed-model regression analyses were performed to identify factors associated with breastfeeding initiation and duration, respectively. Maternal lower education [Odds Ratio (OR): 2.29, 95% Confidence intervals (95% CI): 1.30–4.04; p = 0.004], smoking during pregnancy (OR: 3.08, 95% CI: 1.64–5.77; p < 0.001), caesarean section (OR = 3.26, 95% CI: 1.83–5.83; p < 0.001), prematurity (OR = 2.74, 95% CI: 1.40–5.37; p = 0.003) and higher birth order (OR = 1.30, 95% CI: 1.04–1.62; p = 0.020) were associated with increased odds of not initiating breastfeeding. Living in rural areas [beta coefficient b = −27.93, p = 0.043], smoking during pregnancy (b = −64.47, p < 0.001), caesarean section (b = −28.76, p = 0.046) and prematurity (b = −46.67, p = 0.048) were significantly associated with shorter breastfeeding duration. Children born chronologically closer to the survey were more likely to breastfeed and for longer periods. Educational promotion and enhancement of breastfeeding awareness that account for maternal exposures are required. Prevention of prematurity and avoidance of unnecessary caesarean section is crucial, while additional breastfeeding support is needed when preterm birth occurs, or caesarean section cannot be avoided. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)

Review

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15 pages, 548 KiB  
Review
Diet and Lipid-Lowering Nutraceuticals in Pediatric Patients with Familial Hypercholesterolemia
by Maria Elena Capra, Giacomo Biasucci, Giuseppe Banderali, Andrea Vania and Cristina Pederiva
Children 2024, 11(2), 250; https://doi.org/10.3390/children11020250 - 15 Feb 2024
Cited by 2 | Viewed by 1799
Abstract
Familial hypercholesterolemia is a genetically determined disease characterized by elevated plasma total and LDL cholesterol levels from the very first years of life, leading to early atherosclerosis. Nutritional intervention is the first-line treatment, complemented with nutraceuticals and drug therapy when necessary. Nutraceuticals with [...] Read more.
Familial hypercholesterolemia is a genetically determined disease characterized by elevated plasma total and LDL cholesterol levels from the very first years of life, leading to early atherosclerosis. Nutritional intervention is the first-line treatment, complemented with nutraceuticals and drug therapy when necessary. Nutraceuticals with a lipid-lowering effect have been extensively studied in the past few decades, and have been recently included in international guidelines as a complement to nutritional and pharmacological treatment in subjects with dyslipidemia. In this review, we explore current nutritional interventions for dyslipidemia in childhood, with a specific focus on the main nutraceuticals studied for treating severe dyslipidemia in pediatric patients. Additionally, we briefly describe their primary mechanisms of action and highlight the advantages and risks associated with the use of lipid-lowering nutraceuticals in childhood. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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Other

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9 pages, 1177 KiB  
Case Report
Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1
by Teofana Otilia Bizerea-Moga, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros and Ramona Stroescu
Children 2023, 10(10), 1701; https://doi.org/10.3390/children10101701 - 17 Oct 2023
Cited by 2 | Viewed by 1725
Abstract
Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The [...] Read more.
Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in SLC34A1 and CYP24A1 genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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9 pages, 640 KiB  
Case Report
Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review
by Lucia Maria Sur, Monica Alina Mager, Alexandru-Cristian Bolunduţ, Adrian-Pavel Trifa and Dana Teodora Anton-Păduraru
Children 2023, 10(4), 727; https://doi.org/10.3390/children10040727 - 14 Apr 2023
Viewed by 1700
Abstract
6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological [...] Read more.
6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late. Improving the diagnosis and monitoring procedures in Romania with correct metabolic management will prevent severe neurological impairment from PTPSD or other BH4Ds. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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8 pages, 781 KiB  
Case Report
PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review
by Ana-Maria Slanina, Adorata-Elena Coman, Dana-Teodora Anton-Păduraru, Elena Popa, Carmen-Liliana Barbacariu, Otilia Novac, Antoneta Dacia Petroaie, Agnes-Iacinta Bacușcă, Mihaela Manole and Adriana Cosmescu
Children 2023, 10(3), 530; https://doi.org/10.3390/children10030530 - 9 Mar 2023
Cited by 1 | Viewed by 1906
Abstract
The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. Genetic testing [...] Read more.
The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. Genetic testing revealed a mutation of the PEX6 (Peroxisomal Biogenesis Factor 6) gene, and the metabolic profile was consistent with the diagnosis. Particularly, the child also presented altered coagulation factors and developed a spontaneous brain hemorrhage. The clinical picture includes several neurological, ophthalmological, digestive, cutaneous, and endocrine disorders as a result of the very long chain fatty acid accumulation as well as secondary oxidative anomalies. The study of metabolic disorders occurring because of genetic mutations is a subject of core importance in the pathology of children today. The PEX mutations, difficult to identify antepartum, are linked to an array of cell anomalies with severe consequences on the patient’s status, afflicting multiple organs and systems. This is the reason for which our case history may be relevant, including a vast number of symptoms, as well as modified biological parameters. Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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10 pages, 2320 KiB  
Systematic Review
Efficacy of Liraglutide in Obesity in Children and Adolescents: Systematic Review and Meta-Analysis of Randomized Controlled Trials
by Alejandra Cornejo-Estrada, Carlos Nieto-Rodríguez, Darwin A. León-Figueroa, Emilly Moreno-Ramos, Cielo Cabanillas-Ramirez and Joshuan J. Barboza
Children 2023, 10(2), 208; https://doi.org/10.3390/children10020208 - 25 Jan 2023
Cited by 9 | Viewed by 4561
Abstract
In the past few decades, childhood obesity has become a significant global health issue, impacting around 107.7 million children and adolescents globally. There is currently minimal usage of pharmacological therapies for childhood obesity in the pediatric population. This research assessed the efficacy of [...] Read more.
In the past few decades, childhood obesity has become a significant global health issue, impacting around 107.7 million children and adolescents globally. There is currently minimal usage of pharmacological therapies for childhood obesity in the pediatric population. This research assessed the efficacy of liraglutide in treating childhood and adolescent obesity. Until 20 October 2022, a systematic literature review was done utilizing PubMed, Scopus, Web of Science, and Embase databases. The search phrases “liraglutide”, “pediatric obesity”, “children”, and “adolescents” were utilized. Using the search method, a total of 185 articles were found. Three studies demonstrating liraglutide’s effectiveness in treating child and adolescent obesity were included. The selected research was done in the United States. As an intervention, liraglutide was administered to 296 participants at a maximal dosage of 3.0 mg. All examined trials were in phase 3. This comprehensive analysis revealed no clinically significant differences between liraglutide and body weight (kg; MD −2.62; 95%CI −6.35 to 1.12; p = 0.17) and body mass index (kg/m2; MD −0.80; 95%CI −2.33 to 0.73, p = 0.31). There was no evidence that liraglutide increased hypoglycemia episodes (RR 1.08; 95%CI 0.37 to 3.15; p = 0.79), or side consequences. However, it was shown that the medicine might help reduce BMI and weight combined with a healthy diet and regular exercise. A lifestyle change may have favorable consequences that will be assessed in the future for adjunctive therapy. PROSPERO database (CRD42022347472) Full article
(This article belongs to the Special Issue Metabolic and Nutritional Diseases in Children)
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