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Nutritional Management of Patients with Inborn Errors of Metabolism

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

Deadline for manuscript submissions: closed (15 July 2024) | Viewed by 12920

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Prof. Dr. María Luz Couce

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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
Special Issues, Collections and Topics in MDPI journals

Dr. Isidro Vitoria Miñana

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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:

To explore the relationship between nutritional status and specific IEM and to identify the best biomarkers for follow-up.
How can we improve adherence to dietary treatments that imply an improvement in the evolution of the disease?
Explore the use and design of web pages and spreadsheets, which facilitate compliance and dietary monitoring in IEM.
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

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Published Papers (10 papers)

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Research

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19 pages, 284 KiB

Open AccessArticle

Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders

by Fiona Boyle, Gary Lynch, Clare M. Reynolds, Adam Green, Gemma Parr, Caoimhe Howard, Ina Knerr and Jane Rice

Nutrients 2024, 16(17), 2812; https://doi.org/10.3390/nu16172812 - 23 Aug 2024

Viewed by 947

Abstract

Amino acid (AA)-related inherited metabolic disorders (IMDs) and urea cycle disorders (UCDs) require strict dietary management including foods low in protein such as fruits, vegetables and starchy roots. Despite this recommendation, there are limited data on the AA content of many of these foods. The aim of this study is to describe an analysis of the protein and AA content of a range of fruits, vegetables and starchy roots, specifically focusing on amino acids (AAs) relevant to AA-related IMDs such as phenylalanine (Phe), methionine (Met), leucine (Leu), lysine (Lys) and tyrosine (Tyr). AA analysis was performed using high-performance liquid chromatography (HPLC) on 165 food samples. Protein analysis was also carried out using the Dumas method. Foods were classified as either ‘Fruits’, ‘Dried fruits’, ‘Cruciferous vegetables’, ‘Legumes’, ‘Other vegetables’ or ‘Starchy roots’. ‘Dried fruits’ and ‘Legumes’ had the highest median values of protein, while ‘Fruits’ and ‘Cruciferous vegetables’ contained the lowest median results. ‘Legumes’ contained the highest and ‘Fruits’ had the lowest median values for all five AAs. Variations were seen in AA content for individual foods. The results presented in this study provide useful data on the protein and AA content of fruits, vegetables and starchy roots which can be used in clinical practice. This further expansion of the current literature will help to improve diet quality and metabolic control among individuals with AA-related IMDs and UCDs. Full article

(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)

18 pages, 308 KiB

Open AccessArticle

Nutrient Status and Intakes of Adults with Phenylketonuria

by Eva Venegas, Simone Langeveld, Kirsten Ahring, Rosa Benitez, An Desloovere, Elena Dios, Eva Gómez, Alvaro Hermida, Cyril Marsaux, Patrick Verloo and Maria-Luz Couce

Nutrients 2024, 16(16), 2724; https://doi.org/10.3390/nu16162724 - 15 Aug 2024

Viewed by 858

Abstract

A phenylalanine-restricted diet, supplemented with protein substitutes (PSs), remains the cornerstone of phenylketonuria (PKU) management. However, adherence is challenging in adulthood, and data on the nutritional status of early and continuously treated adults with PKU (ETAwPKU) are scarce. A total of 34 ETAwPKU (16 females; mean ± SD, age: 28 ± 9 years, phenylalanine concentration: 847 ± 285 µmol/L) and 34 age- and sex-matched control subjects were compared regarding their blood nutrient status, self-reported dietary intake, and cognitive wellbeing. Though diet adherence varied, all ETAwPKU were taking a PS. No significant differences were found for blood DHA, calcium, ferritin, transferrin, and zinc concentrations. However, selenium and ubiquinone concentrations were 16% and 29% lower in ETAwPKU, respectively (p < 0.01 and <0.0001). Vitamin concentrations (D, B12, B6, and folic acid) were significantly higher in ETAwPKU except for alpha-tocopherol. Amino acid (AA) concentrations differed between ETAwPKU and controls: they were significantly lower for 12 AAs and higher for phenylalanine and glycine. ETAwPKU had a significantly higher intake of most minerals and vitamins, except for niacin and phosphorus (no difference). Depending on the nutrient, PSs represented 52–100% of patients’ daily intake and 19% of total daily energy intake. Compared with controls, ETAwPKU scored significantly lower in three of the four subscales of the cognitive wellbeing questionnaire. Overall, the blood DHA and micronutrient status of ETAwPKU was adequate, except for selenium, with higher intakes than controls for most micronutrients. Patients relied heavily on PSs to meet the recommended intakes for protein, DHA, and micronutrients. The potential clinical impact of differences found in AA status should be further studied. Full article

(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)

15 pages, 2281 KiB

Open AccessArticle

Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria

by L. R. Ranganath, M. Khedr, A. M. Milan, A. S. Davison, A. T. Hughes, B. P. Norman, H. Bygott, E. Luangrath, S. Judd, C. Soulsby, B. Olsson and R. Imrich

Nutrients 2024, 16(16), 2722; https://doi.org/10.3390/nu16162722 - 15 Aug 2024

Viewed by 677

Abstract

Introduction: Protein nutrition disorder in alkaptonuria (AKU), resulting in increased homogentisic acid (HGA) before nitisinone therapy and increased tyrosine (TYR) during nitisinone therapy, may benefit from dietetic intervention. The aim of this study was to characterise the diet and their effects prospectively in those who received formal dietetic intervention in the nitisinone-receiving National Alkaptonuria Centre (NAC) patients with those who did not in no-nitisinone Suitability of Nitisinone in Alkaptonuria 2 (SN2 N−) and nitisinone-treated SN2 (SN2 N+) randomised study groups. Patients and methods: A total of 63, 69, and 69 AKU patients from the NAC, SN2 N−, and SN2 N+ were studied for anthropometric (weight, BMI), body composition (including muscle mass, %body fat, hand grip strength), chemical characteristics (serum TYR, serum phenylalanine, urine urea or uUREA, and urine creatinine or uCREAT), and corneal keratopathy. Nitisinone 2 mg and 10 mg were employed in the NAC and SN2 N+ groups, respectively. Dieticians managed protein intake in the NAC, while the SN2 N− and SN2 N+ groups only received advice on self-directed protein restriction during four years of study duration. Results: uUREA decreased in the NAC, SN2 N−, and SN2 N+ groups, showing that protein restriction was achieved in these groups. Body weight and BMI increased in the NAC and SN2 N+ groups. uCREAT decreased significantly in SN2 N− and SN2 N+ compared with the NAC over four years of study. Corneal keratopathy was less frequent in the NAC than in the SN2 N+ group. Active dietetic intervention in NAC stabilised lean body mass (muscle mass, hand grip strength) despite a decrease in uUREA and uCREAT, as well as sTYR. Conclusion: Ongoing dietetic intervention prevented loss of lean body mass despite protein restriction and moderated serum tyrosine increase, leading to less prevalent corneal keratopathy. Protein restriction risks fat mass gain. Full article

(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)

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13 pages, 443 KiB

Open AccessArticle

Breastfeeding in PKU and Other Amino Acid Metabolism Disorders—A Single Centre Experience

by Agnieszka Kowalik, Sylwia Gudej-Rosa, Marta Nogalska, Joanna Myszkowska-Ryciak and Jolanta Sykut-Cegielska

Nutrients 2024, 16(15), 2544; https://doi.org/10.3390/nu16152544 - 3 Aug 2024

Viewed by 1065

Abstract

In addition to the numerous immunological and nutritional benefits that breast milk offers to infants, its proportion in the diet must be limited or even excluded in the case of inborn errors of amino acid metabolism (IEM). The objective of the study was to expand knowledge about breastfeeding and the degree of contribution of breast milk to the feeding of infants with IEM before and after the introduction of expanded newborn screening. A retrospective single-centre study was conducted on 127 infants born between 1997 and 2020: 66 with phenylketonuria (PKU), 45 with other IEM (non-PKU), all diagnosed through newborn screening (NBS), and 16 non-PKU diagnosed through selective screening (SS). The time of initiation of dietary treatment and the proportion of breast milk in the diet, both expressed and breastfed, with or without intake control, were analysed at 1, 3, and 6 months after birth. For 47% of the newborns in Groups 1 and 2, the dietary treatment was started before the 10th day of life; in Group 3, the dietary treatment was started after the 10th day of life for all children. During the first month of life, the proportion of infants receiving breast milk was higher in the NBS-PKU (74%) and the NBS non-PKU (80%) groups, compared with 38% in the SS non-PKU infants. In the subsequent months of life, the proportion of infants receiving human milk (either from the breast or a bottle) declined in all groups. This decline occurred more in bottle-fed rather than directly breast-fed infants. Our observations indicate that the model of feeding from a bottle with expressed milk may have had an adverse effect on maintaining lactation and may have contributed to a faster transition to formula milk. Maintaining lactation and extending the period of feeding the infant with human milk in the first 6 months of life is possible by breastfeeding on demand, under regular biochemical monitoring: preferably weekly in PKU infants, and at least every 2–4 weeks in infants with other IEM. Full article

(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)

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16 pages, 2314 KiB

Open AccessArticle

Phenylalanine-Free Infant Formula in Patients with Phenylketonuria: A Retrospective Study

by Ozlem Yilmaz Nas, Catherine Ashmore, Sharon Evans, Alex Pinto, Anne Daly, Nurcan Yabancı Ayhan and Anita MacDonald

Nutrients 2024, 16(14), 2204; https://doi.org/10.3390/nu16142204 - 10 Jul 2024

Viewed by 1264

Abstract

The long-term efficacy and use of phenylalanine-free infant amino acid formula (PFIF) is understudied. This retrospective, longitudinal study evaluated PFIF (PKU Start: Vitaflo International) in children with phenylketonuria, collecting data on metabolic control, growth, dietary intake, and symptoms and the child’s experience with PFIF. Twenty-five children (12 males, 48%) with a median age of 3.6 years (2.0–6.2 years) were included. During 24 months follow-up, children maintained normal growth and satisfactory metabolic control. The protein intake from protein substitutes increased from 2.7 at 6 months to 2.8 g/kg/day at 24 months, while natural protein decreased from 0.6 to 0.4 g/kg/day. By 24 months, most children (n = 16, 64%) had stopped PFIF, while nine (36%) continued with a median intake of 450 mL/day (Q1:300 mL, Q3: 560 mL). Children who continued PFIF after 24 months of age had higher energy and fat intakes with higher weight/BMI z-scores compared with those who stopped earlier (p < 0.05). Constipation was reported in 44% of infants but improved with age. Initial difficulty with PFIF acceptance was reported in 20% of infants but also improved with time. Prolonged use of PFIF in pre-school children may contribute to poor feeding patterns and overweight; thus, replacing the majority of the protein equivalent provided by PFIF with a weaning protein substitute by 12 months and discontinuing PFIF before 2 years is recommended. Full article

(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)

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12 pages, 1551 KiB

Open AccessArticle

Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status

by Lizbeth Alejandra López-Mejía, Marcela Vela-Amieva, Sara Guillén-López, Daniela Mancera-Hernández, Isabel Ibarra-González, Edgar Alejandro Medina-Torres, Sara Elva Espinosa-Padilla and Cynthia Fernández-Lainez

Nutrients 2024, 16(11), 1775; https://doi.org/10.3390/nu16111775 - 5 Jun 2024

Viewed by 700

Abstract

Propionate defects (PDs) mainly include methylmalonic (MMA) and propionic acidemia (PA) defects. Lifelong PD patients progress from the compensated to the decompensated stages, the latter of which are characterized by life-threatening acidemia and hyperammonemia crises. PD patients can suffer immunocompromise, especially during the decompensation stage. There is a significant gap in the research regarding the humoral immune response in PD patients. Here, we analyzed serum immunoglobulin concentrations and hemograms across compensated and decompensated stages in PD patients. Nutritional status and crisis triggers of decompensation were also explored. Twenty patients were studied, and 25 decompensation events (DE) and 8 compensation events (CE) were recorded. Compared with those in the CE group, the IgG levels in the DE group (513.4 ± 244.5 mg/dL) were significantly lower than those in the CE group (860.8 ± 456.5 mg/dL) (p < 0.0087). The mean hemoglobin concentration was significantly lower in the DE group (11.8 g/dL) than in the CE group (13.4 g/dL) (p < 0.05). The most frequent (48%) possible decompensation trigger factor was infection. Most of the events were registered in eutrophic patients (87.9%), despite which 65.2% and 50% of patients who experienced decompensated and compensated events, respectively, presented with hypogammaglobulinemia G. These findings provide evidence of the immunodeficiency of PD patients, independent of their nutritional status. We suggest that PD patients be managed as immunocompromised independently of their nutritional status or metabolic state (compensated or decompensated). Full article

(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)

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12 pages, 731 KiB

Open AccessArticle

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

Viewed by 2102

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 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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12 pages, 1427 KiB

Open AccessReview

Nutritional Management of Patients with Fatty Acid Oxidation Disorders

by Luis Peña-Quintana and Patricia Correcher-Medina

Nutrients 2024, 16(16), 2707; https://doi.org/10.3390/nu16162707 - 14 Aug 2024

Viewed by 667

Abstract

Treatment of fatty acid oxidation disorders is based on dietary, pharmacological and metabolic decompensation measures. It is essential to provide the patient with sufficient glucose to prevent lipolysis and to avoid the use of fatty acids as fuel as far as possible. Dietary management consists of preventing periods of fasting and restricting fat intake by increasing carbohydrate intake, while maintaining an adequate and uninterrupted caloric intake. In long-chain deficits, long-chain triglyceride restriction should be 10% of total energy, with linoleic acid and linolenic acid intake of 3–4% and 0.5–1% (5/1–10/1 ratio), with medium-chain triglyceride supplementation at 10–25% of total energy (total MCT+LCT ratio = 20–35%). Trihepatnoin is a new therapeutic option with a good safety and efficacy profile. Patients at risk of rhabdomyolysis should ingest MCT or carbohydrates or a combination of both 20 min before exercise. In medium- and short-chain deficits, dietary modifications are not advised (except during exacerbations), with MCT contraindicated and slow sugars recommended 20 min before any significant physical exertion. Parents should be alerted to the need to increase the amount and frequency of carbohydrate intake in stressful situations. The main measure in emergency hospital treatment is the administration of IV glucose. The use of carnitine remains controversial and new therapeutic options are under investigation. Full article

(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)

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15 pages, 1237 KiB

Open AccessReview

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 3 | Viewed by 2912

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 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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Other

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25 pages, 1889 KiB

Open AccessSystematic Review

Factors Affecting Adherence to a Low Phenylalanine Diet in Patients with Phenylketonuria: A Systematic Review

by Roza Yagudina, Andrey Kulikov, Vyacheslav Serpik, Marina Protsenko and Kirill Kopeyka

Nutrients 2024, 16(18), 3119; https://doi.org/10.3390/nu16183119 - 15 Sep 2024

Viewed by 389

Abstract

Phenylketonuria (PKU) is an inherited metabolic disorder that requires lifelong adherence to a low-phenylalanine (Phe) diet to prevent severe neurological complications. However, maintaining dietary adherence can be challenging for patients and their families. This systematic review aimed to comprehensively evaluate the factors affecting adherence to a low-Phe diet in patients with PKU. A systematic search of multiple databases was conducted, and 49 studies were included in the final analysis. The quality of evidence was assessed using the Joanna Briggs Institute levels of evidence and the Quality Assessment with Diverse Studies tool. The review identified four main categories of factors influencing dietary adherence: family-related factors (social, psychological, behavioral, and educational), patient-specific factors (psychological, behavioral, educational, and demographic), environmental factors (healthcare professional support, educational and camp-based interventions, and the COVID-19 pandemic), and therapy-related factors (protein substitute formulation, clinic visits, blood tests, and telemedicine). The findings highlight the complex interplay between elements contributing to dietary adherence in PKU patients and underscore the importance of a multifaceted approach to support patients and their families. Future research should prioritize high-quality longitudinal and experimental studies to provide stronger evidence for the PKU community. Full article

(This article belongs to the Special Issue Nutritional Management of Patients with Inborn Errors of Metabolism)

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