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Dietary Management for Patients with Inborn Errors of Metabolism

A special issue of Nutrients (ISSN 2072-6643). This special issue belongs to the section "Nutrition and Metabolism".

Deadline for manuscript submissions: 25 March 2026 | Viewed by 662

Special Issue Editor


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Guest Editor
1. The Department of Pediatrics Section of Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA
2. Children's Hospital Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA
Interests: inborn errors of metabolism (organic acidemias, fatty acid oxidation disorders, urea cycle disorders, and hereditary fructose intolerance); clinical genetics; metabolomics; systems biology

Special Issue Information

Dear Colleagues,

Inborn errors of metabolism represent a rare group of genetic conditions in which small molecules (amino acids, fatty acids, carbohydrates, etc.) cannot be metabolized at the cellular level, leading to a build-up of a toxic metabolite and/or a reduction in a vital metabolic product. An even smaller subset of these conditions have dietary modifications as a component of therapy. In these conditions, in combination with medical therapies and/or supportive care in illness, dietary modifications can be used to mitigate long- and short-term morbidities and allow for the better control of the disease. Methods of dietary management have evolved over time, reflecting the development of novel dietary therapies as well as gaining a better understanding of each disorder on and off of specific therapies. Here, we investigate inborn errors of metabolism that require dietary intervention, and evaluate the efficacy of these interventions.

Dr. Peter R. Baker II
Guest Editor

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Keywords

  • organic acidemias
  • urea cycle disorders
  • galactosemia
  • hereditary fructose intolerance
  • glycogen storage disorders
  • phenylketonuria
  • disorders of lysine metabolism
  • aminoacidopathy
  • maple syrup urine disease
  • homocystinuria

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Published Papers (1 paper)

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Research

11 pages, 748 KB  
Article
Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism
by Everardo Josué Díaz-López, Antia Fernández-Pombo, Álvaro Hermida-Ameijeiras, Eva Gómez-Vázquez, Gemma Rodríguez-Carnero, Noemí Jiménez-López, Rocío Villar-Taibo, Ana Cantón-Blanco, Virginia Muñoz-Leira, Paula Sánchez-Pintos, Maria-Luz Couce and Miguel A. Martínez Olmos
Nutrients 2025, 17(20), 3240; https://doi.org/10.3390/nu17203240 - 15 Oct 2025
Viewed by 395
Abstract
Background/Objectives: The transition from pediatric to adult care in inborn errors of metabolism (IEM) is considered important to ensure continuity of care, adherence to treatment, and long-term metabolic control. However, transition processes are often delayed, and standardized protocols are lacking, which can [...] Read more.
Background/Objectives: The transition from pediatric to adult care in inborn errors of metabolism (IEM) is considered important to ensure continuity of care, adherence to treatment, and long-term metabolic control. However, transition processes are often delayed, and standardized protocols are lacking, which can negatively impact patient outcomes. This study aimed to evaluate the impact of structured transition consultations on adult care engagement, nutritional management, and follow-up adherence in patients with IEM. Methods: This retrospective study included 160 patients (59.4% women) diagnosed with IEM and with a mean age of 36.2 ± 11.6 years. Patients were divided into two groups: those who underwent a structured transition consultation (n = 41) and those who did not (n = 119). Data on demographic and clinical characteristics, dietary management, and follow-up adherence were collected. Results: Patients who underwent structured transition consultations were significantly younger at diagnosis (1 [IQR 131] months vs. 66 [IQR 359] months, p = 0.001) and at their first adult visit (24.4 ± 9.5 vs. 32.3 ± 10.6 years, p < 0.001) compared to those who did not. Neonatal screening (45% of the overall cohort) was more common among these patients (65.9% vs. 37.8%, p = 0.007) suggesting a trend toward smoother integration into adult care. The absence of dietary records was considerably more frequent in the non-transition group (43.7% vs. 17.1%), with a significant crude association (p = 0.007) that was attenuated after age adjustment (p = 0.064). Overall follow-up adherence was high (88.1%) and comparable between groups. Conclusions: Structured transition consultations in patients with IEM were associated with earlier participation in adult care, better maintenance of dietary records, and high overall follow-up adherence, even among younger patients typically at higher risk of disengagement. Full article
(This article belongs to the Special Issue Dietary Management for Patients with Inborn Errors of Metabolism)
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