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

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 19260

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Special Issue Editor

Dr. Mousumi Bose

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Guest Editor

Department of Nutrition and Food Studies, Montclair State University, 1 Normal Avenue, Montclair, NJ 07043, USA
Interests: rare disease; pediatrics; community-based research; caregivers; nutrition; quality of life

Special Issue Information

Dear Colleagues,

The purpose of this Special Issue is to provide a forum to discuss current nutrition care, therapies, and interventions in the management of rare diseases. According to the Orphan Drug Act of 1983, a rare disease is defined as a condition that affects fewer than 200,000 people in the United States. In the European Union, a rare disease is described as a condition that affects fewer than 1 in 2,000 people. Many rare diseases are diagnosed in childhood and can have a lifelong impact. While the majority of rare diseases have a genetic basis, rare diseases can affect multiple organ systems of the body, resulting in debilitating and often life-limiting outcomes.

Individual nutritional status may play a role in the care of individuals with rare diseases. Rare diseases can affect growth, metabolism, feeding, and gastrointestinal function. Moreover, dietary modification has been shown to potentially improve symptoms in several rare diseases.

In this Special Issue, our overall goal is to establish and advance the best practices for nutrition-focused clinical care in and research on rare diseases. By highlighting existing and emerging research focusing on the nutrition-related care and management of rare diseases, we will be able to critically evaluate current nutrition care practices, methodologies for dietary assessment and related outcomes, and the potential effectiveness of dietary therapies for various rare diseases. This will also identify gaps in the field that need to be addressed to inform better clinical trial design for nutrition interventions and dietary recommendations aimed at improving the quality of life for individuals and families affected by rare diseases.

Dr. Mousumi Bose
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. Nutrients is an international peer-reviewed open access semimonthly 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 2900 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

rare disease
nutrition
diet
clinical trials
metabolism
clinical care
metabolic disorders

Published Papers (7 papers)

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Research

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37 pages, 427 KiB

Open AccessArticle

Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy

by Sedda Amzali, Vinicius Dias Wilson, Sébastien Bommart, Marie-Christine Picot, Simon Galas, Jacques Mercier, Patrick Poucheret, Jean-Paul Cristol, Sandrine Arbogast and Dalila Laoudj-Chenivesse

Nutrients 2023, 15(7), 1673; https://doi.org/10.3390/nu15071673 - 30 Mar 2023

Cited by 2 | Viewed by 2695

Abstract

In patients with facioscapulohumeral muscular dystrophy (FSHD), a rare genetic neuromuscular disease, reduced physical performance is associated with lower blood levels of vitamin C, zinc, selenium, and increased oxidative stress markers. Supplementation of vitamin C, vitamin E, zinc, and selenium improves the quadriceps’ physical performance. Here, we compared the nutritional status of 74 women and 85 men with FSHD. Calorie intake was lower in women with FSHD than in men. Moreover, we assessed vitamin C, vitamin E, zinc, copper, and selenium intakes in diet and their concentrations in the plasma. Vitamin E, copper, and zinc intake were lower in women with FSHD than in men, whereas plasma vitamin C, copper levels, and copper/zinc ratio were higher in women with FSHD than in men. The dietary intake and plasma concentrations of the studied vitamins and minerals were not correlated in both sexes. A well-balanced and varied diet might not be enough in patients with FSHD to correct the observed vitamin/mineral deficiencies. A low energy intake is a risk factor for suboptimal intake of proteins, vitamins, and minerals that are important for protein synthesis and other metabolic pathways and that might contribute to progressive muscle mass loss. Antioxidant supplementation and higher protein intake seem necessary to confer protection against oxidative stress and skeletal muscle mass loss. Full article

(This article belongs to the Special Issue Nutrition Care for Rare Diseases Patients)

12 pages, 782 KiB

Open AccessArticle

Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients

by Giorgia Gugelmo, Nicola Vitturi, Francesco Francini-Pesenti, Ilaria Fasan, Livia Lenzini, Romina Valentini, Gianni Carraro, Angelo Avogaro and Paolo Spinella

Nutrients 2023, 15(3), 658; https://doi.org/10.3390/nu15030658 - 28 Jan 2023

Cited by 4 | Viewed by 2131

Abstract

Fabry disease (FD) is an X-linked lysosomal disorder caused by α-galactosidase A enzyme deficiency. Gastrointestinal (GI) manifestations are reported in FD with a prevalence of about 50%, usually treated by Enzymatic Replacement Therapy (ERT) or oral treatment. Since FODMAPs (Fermentable Oligosaccharides, Disaccharides, Monosaccharides, and Polyols) can be involved in GI manifestations and dysbiosis in FD patients, a low-FODMAP diet could represent an alternative adjunctive treatment in FD subjects, as well as being useful for reducing symptoms in Irritable Bowel Syndrome (IBS). We retrospectively assessed data from 36 adult FD patients followed at the Inherited Metabolic Rare Diseases Adult Centre of the University Hospital of Padova (mean age 47.6 ± 16.2 years). Patients were screened for GI symptoms by IBS severity score and Gastrointestinal Symptom Rating Scale (GSRS) questionnaires. In symptomatic patients, the low-FODMAP diet was proposed in order to improve GI manifestations; it consists of a phase of elimination of fermentable saccharides, succeeded by a gradual reintegration of the same. Severe or moderate GI symptoms were found in 61.1% of patients, with no correlation to the therapy in use, and significantly more severe in the classical form of FD. The protocol was completed by seven patients affected by severe GI manifestations, significantly higher than the others. The low-FODMAP diet significantly improved indigestion, diarrhoea, and constipation. This dietetic protocol seemed to have a positive impact on intestinal symptoms, by identifying and reducing the intake of the foods most related to the onset of disorders and improving the clinical manifestations. A low-FODMAP diet may be an effective alternative approach to improve intestinal manifestations and quality of life, and nutrition can play an important role in the multidisciplinary care of patients with FD. Full article

(This article belongs to the Special Issue Nutrition Care for Rare Diseases Patients)

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11 pages, 663 KiB

Open AccessArticle

Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

by Susan Thompson, Ashley Hertzog, Arthavan Selvanathan, Kiera Batten, Katherine Lewis, Janelle Nisbet, Ashleigh Mitchell, Troy Dalkeith, Kate Billmore, Francesca Moore, Adviye Ayper Tolun, Beena Devanapalli, Drago Bratkovic, Cathie Hilditch, Yusof Rahman, Michel Tchan and Kaustuv Bhattacharya

Nutrients 2023, 15(3), 531; https://doi.org/10.3390/nu15030531 - 19 Jan 2023

Cited by 2 | Viewed by 3131

Abstract

3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over their lifespan, incorporating acute and long-term dietary management, was performed. Data from 10 patients contributed to this study. The index case of this disorder was lost to follow-up, but there is 100% survival in the remainder of the cases despite several having experienced life-threatening episodes. In the acute setting, five of nine patients have used 900 mg/kg/day of sodium D,L 3-hydroxybutyrate in combination with intravenous dextrose-containing fluids (delivering glucose above estimated basal utilization requirements). All patients have been on long-term protein restriction, and those diagnosed more recently have had additional fat restriction. Most patients take L-carnitine. Three children and none of the adults take nocturnal uncooked cornstarch. Of the cohort, there were two patients that presented atypically—one with fulminant liver failure and the other with isolated developmental delay. Dietary management in patients with HMGCL deficiency is well tolerated, and rapid institution of acute supportive metabolic treatment is imperative to optimizing survival and improve outcomes in this disorder. Full article

(This article belongs to the Special Issue Nutrition Care for Rare Diseases Patients)

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13 pages, 1677 KiB

Open AccessArticle

Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment

by Dearbhla Milner, Fiona Boyle, Jenny McNulty and Ina Knerr

Nutrients 2023, 15(2), 407; https://doi.org/10.3390/nu15020407 - 13 Jan 2023

Viewed by 2347

Abstract

Iodine is an essential mineral required for the synthesis of thyroid hormones. Iodine plays a critical role in growth and neurocognitive development. Classical galactosaemia is a disorder resulting from an inborn error in galactose metabolism. Its current management consists of life-long lactose and galactose dietary restriction. This study estimated dietary intakes of iodine in infants and children with classical galactosaemia in the Republic of Ireland. The diets of 43 participants (aged 7 months–18 years) with classical galactosaemia were assessed for iodine intake using an iodine-specific food frequency questionnaire. Intakes were compared to the European Food Safety Authority (EFSA) dietary recommendations for iodine intake. The potential role of iodine fortification of dairy alternative products was also examined. There were no significant differences observed between sex, ethnicity and parental education and meeting dietary iodine recommendations. Differences, however, were seen between age groups, causing the p value to approach statistical significance (p = 0.06). Infants consuming infant formula were likely to meet iodine recommendations. However, over half (53%) of children aged 1–18 years had average intakes below the recommendations for age. For these children, consumption of iodine-fortified dairy alternative milk was the leading source of iodine in the diets, followed by fish/shellfish and eggs. An assessment of iodine intake should be undertaken during dietetic reviews for those with classical galactosaemia. Mandatory iodine fortification of all dairy alternative products would result in 92% of the total population cohort meeting iodine recommendations based on their current consumption. Full article

(This article belongs to the Special Issue Nutrition Care for Rare Diseases Patients)

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13 pages, 877 KiB

Open AccessArticle

Characterization of Choline Nutriture among Adults and Children with Phenylketonuria

by Meriah S. Schoen, Usha Ramakrishnan, Jessica A. Alvarez, Thomas R. Ziegler, Xiangqin Cui and Rani H. Singh

Nutrients 2022, 14(19), 4056; https://doi.org/10.3390/nu14194056 - 29 Sep 2022

Cited by 3 | Viewed by 2094

Abstract

Choline is an essential nutrient for brain development and function that is attained through high-protein foods, which are limited in the phenylalanine-restricted diet of people with phenylketonuria (PKU). This study compared choline consumption among individuals with PKU to a reference sample from the National Health and Nutrition Examination Survey (NHANES), and identified treatment and diet-related factors that may modulate choline needs. Participants were individuals with PKU (n = 120, 4–61 years) managed with dietary therapy alone (n = 49), sapropterin dihydrochloride for ≥1 year (n = 38), or pegvaliase for ≥1 year with no medical food (n = 33). NHANES participants were not pregnant or nursing and came from the 2015–2018 cycles (n = 10,681, 4–70 years). Dietary intake data were used to estimate total usual intake distributions for choline, and mean probability of adequacy (MPA) was calculated as a summary index of nutrient adequacy for four methyl-donor/co-factor nutrients that impact choline utilization (folate, vitamin B12, vitamin B6, and methionine). Only 10.8% (SE: 2.98) of the total PKU sample (14.7% [SE: 4.03] of children; 6.8% [SE: 2.89] of adults) achieved the adequate intake (AI) for choline, while 12.2% (SE:0.79) of the NHANES sample met the recommended level. Adults receiving pegvaliase were the most likely to exceed the AI for choline (14.82% [SE: 4.48]), while adults who were on diet therapy alone were the least likely (5.59% [SE: 2.95]). Without fortified medical foods, individuals on diet therapy and sapropterin would not be able to achieve the AI, and MPA for other methyl donor/co-factor nutrients would be reduced. More frequent monitoring of choline intake and increased choline fortification of medical foods could benefit this population. Full article

(This article belongs to the Special Issue Nutrition Care for Rare Diseases Patients)

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Review

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26 pages, 1497 KiB

Open AccessReview

Can Bioactive Food Substances Contribute to Cystic Fibrosis-Related Cardiovascular Disease Prevention?

by Laura Mihaela Trandafir, Otilia Elena Frăsinariu, Elena Țarcă, Lăcrămioara Ionela Butnariu, Maria Magdalena Leon Constantin, Mihaela Moscalu, Oana Raluca Temneanu, Alina Sinziana Melinte Popescu, Marian George Melinte Popescu, Iuliana Magdalena Stârcea, Elena Cojocaru and Stefana Maria Moisa

Nutrients 2023, 15(2), 314; https://doi.org/10.3390/nu15020314 - 08 Jan 2023

Cited by 2 | Viewed by 2554

Abstract

Advances in cystic fibrosis (CF) care have significantly improved the quality of life and life expectancy of patients. Nutritional therapy based on a high-calorie, high-fat diet, antibiotics, as well as new therapies focused on CFTR modulators change the natural course of the disease. They do so by improving pulmonary function and growing BMI. However, the increased weight of such patients can lead to unwanted long-term cardiovascular effects. People with CF (pwCF) experience several cardiovascular risk factors. Such factors include a high-fat diet and increased dietary intake, altered lipid metabolism, a decrease in the level of fat-soluble antioxidants, heightened systemic inflammation, therapeutic interventions, and diabetes mellitus. PwCF must pay special attention to food and eating habits in order to maintain a nutritional status that is as close as possible to the proper physiological one. They also have to benefit from appropriate nutritional counseling, which is essential in the evolution and prognosis of the disease. Growing evidence collected in the last years shows that many bioactive food components, such as phytochemicals, polyunsaturated fatty acids, and antioxidants have favorable effects in the management of CF. An important positive effect is cardiovascular prevention. The possibility of preventing/reducing cardiovascular risk in CF patients enhances both quality of life and life expectancy in the long run. Full article

(This article belongs to the Special Issue Nutrition Care for Rare Diseases Patients)

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13 pages, 333 KiB

Open AccessFeature PaperReview

Complications of the Low Phenylalanine Diet for Patients with Phenylketonuria and the Benefits of Increased Natural Protein

by Nicole McWhorter, Mesaki K. Ndugga-Kabuye, Marja Puurunen and Sharon L. Ernst

Nutrients 2022, 14(23), 4960; https://doi.org/10.3390/nu14234960 - 23 Nov 2022

Cited by 8 | Viewed by 2724

Abstract

Phenylketonuria (PKU) is an inherited disorder in which phenylalanine (Phe) is not correctly metabolized leading to an abnormally high plasma Phe concentration that causes profound neurologic damage if left untreated. The mainstay of treatment for PKU has centered around limiting natural protein in the diet while supplementing with medical foods in order to prevent neurologic injury while promoting growth. This review discusses several deleterious effects of the low Phe diet along with benefits that have been reported for patients with increased natural protein intake while maintaining plasma Phe levels within treatment guidelines. Full article

(This article belongs to the Special Issue Nutrition Care for Rare Diseases Patients)

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