Nutritional Management of 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: 15 July 2024 | Viewed by 3678

Special Issue Editors


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Guest Editor
Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain
Interests: nutrition; inborn errors of metabolism; neonatology
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Guest Editor
Nutrition and Metabolopathies Unit, La Fe University Hospital, 46025 Valencia, Spain
Interests: inborn errors of metabolism; nutrition; infant

Special Issue Information

Dear Colleagues,

Nutrition in inborn errors of metabolism (IEM), particularly in intermediary metabolism diseases, is a key element in their treatment to prevent complications, especially neurological ones, and even death. Metabolic imbalance must be corrected and adequate nutritional support provided for normal growth and development, avoiding excessive intake of any toxic nutrient. All diets prescribed for IEM must be personalized and take into account the patient's clinical status, tolerances, metabolic stability, age, developmental abilities, and probable prognosis. However, despite the advances in recent years, this diet therapy is sometimes very complex, requiring strict control over time that is not always well known.

The objectives and questions of this Special Issue are:

  1. To explore the relationship between nutritional status and specific IEM and to identify the best biomarkers for follow-up.
  2. How can we improve adherence to dietary treatments that imply an improvement in the evolution of the disease?
  3. Explore the use and design of web pages and spreadsheets, which facilitate compliance and dietary monitoring in IEM.
  4. In metabolic disease, how can we identify, prevent, and treat alterations in vitamin and mineral metabolism?

Prof. Dr. María Luz Couce
Dr. Isidro Vitoria Miñana
Guest Editors

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Keywords

  • dietary calculation
  • dietary carbohydrates
  • dietary proteins
  • diet therapy
  • energy
  • fatty acids
  • metabolism
  • mineral requirements
  • vitamin requirements

Published Papers (2 papers)

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Research

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12 pages, 731 KiB  
Article
Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
by Isidro Vitoria-Miñana, María-Luz Couce, Domingo González-Lamuño, Mónica García-Peris and Patricia Correcher-Medina
Nutrients 2023, 15(16), 3566; https://doi.org/10.3390/nu15163566 - 13 Aug 2023
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Abstract
Human milk (HM) offers important nutritional benefits. However, except for phenylketonuria (PKU), there are little data on optimal levels of consumption of HM and a special formula free of disease-related amino acids (SF-AA) in infants with inborn errors of metabolism of amino acids [...] Read more.
Human milk (HM) offers important nutritional benefits. However, except for phenylketonuria (PKU), there are little data on optimal levels of consumption of HM and a special formula free of disease-related amino acids (SF-AA) in infants with inborn errors of metabolism of amino acids and proteins (IEM-AA-P). We designed a spreadsheet to calculate the amounts of SF-AA and HM required to cover amino acid, protein, and energy needs in patients with the nine main IEM-AA-P in infants aged under 6 months. Upon entering the infant’s weight and the essential amino acid or intact protein requirements for the specific IEM, the spreadsheet calculates the corresponding required volume of HM based on the amino acid concentration in HM. Next, the theoretical daily fluid intake (typical range, 120–200 mL/kg/day) is entered, and the estimated daily fluid intake is calculated. The required daily volume of SF-AA is calculated as the difference between the total fluid intake value and the calculated volume of HM. The spreadsheet allows for the introduction of a range of requirements based on the patient’s metabolic status, and includes the option to calculate the required volume of expressed HM, which may be necessary in certain conditions such as MMA/PA and UCD. In cases in which breastfeeding on demand is feasible, the spreadsheet determines the daily amount of SF-AA divided over 6–8 feeds, assuming that SF-AA is administered first, followed by HM as needed. Intake data calculated by the spreadsheet should be evaluated in conjunction with data from clinical and nutritional analyses, which provide a comprehensive understanding of the patient’s nutritional status and help guide individualized dietary management for the specific IEM. Full article
(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)
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Review

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15 pages, 1237 KiB  
Review
Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition
by Domingo González-Lamuño, Francisco Jesús Arrieta-Blanco, Elena Dios Fuentes, María Teresa Forga-Visa, Monstserrat Morales-Conejo, Luis Peña-Quintana and Isidro Vitoria-Miñana
Nutrients 2024, 16(1), 135; https://doi.org/10.3390/nu16010135 - 30 Dec 2023
Cited by 1 | Viewed by 1441
Abstract
Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and management. The diagnosis of disorders afffecting homocysteine (Hcy) metabolism faces delays due to insufficient awareness of its clinical presentation and unique biochemical [...] Read more.
Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and management. The diagnosis of disorders afffecting homocysteine (Hcy) metabolism faces delays due to insufficient awareness of its clinical presentation and unique biochemical characteristics. In cases of arterial or venous thrombotic vascular events, particularly with other comorbidities, it is crucial to consider moderate to severe HHcy. A nutritional approach to HHcy management involves implementing dietary strategies and targeted supplementation, emphasizing key nutrients like vitamin B6, B12, and folate that are crucial for Hcy conversion. Adequate intake of these vitamins, along with betaine supplementation, supports Hcy remethylation. Lifestyle modifications, such as smoking cessation and regular physical activity, complement the nutritional approach to enhance Hcy metabolism. For individuals with HHcy, maintaining a plasma Hcy concentration below 50 μmol/L consistently is vital to lowering the risk of vascular events. Collaboration with healthcare professionals and dietitians is essential for developing personalized dietary plans addressing the specific needs and underlying health conditions. This integrated approach aims to optimize metabolic processes and reduce the associated health risks. Full article
(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)
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