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Nutrients
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Therapeutic Opportunities for Food Supplements in Neurodegenerative Disease (2nd Edition)
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Therapeutic Opportunities for Food Supplements in Neurodegenerative Disease (2nd Edition)

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

Deadline for manuscript submissions: 15 January 2026 | Viewed by 1171

Special Issue Editors

Dr. Andrea Domenico Praticò

E-Mail Website
Guest Editor
Unit of Pediatrics, Deparment of Medicine and Surgery, University Kore of Enna, Cittadella Universitaria, 94100 Enna, Italy
Interests: child neurology; neurocutaneous disorders; immune-mediated disease of the central and peripheral nervous system; epilepsy; neurogenetics; movement disorders
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Martino Ruggieri

E-Mail Website
Guest Editor
Unit of Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy
Interests: pediatric neurology; neurocutaneous disorders; neurofibromatosis; tuberous sclerosis; Sturge–Weber syndrome; hypomelanosis of Ito; mosaic neurocutaneous disorders; immune-mediated disorders of the nervous system
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Numerous epidemiologic studies report a protective association between a balanced and adequate diet and cognitive impairment, brain health and neurodegenerative diseases. At the same time, data from clinical trials supporting these observational findings are also emerging, in particular in childhood and neonatal ages.

These neuroprotective properties may be linked directly to caloric restrictions or to certain neuroprotective properties of food (in long-chain-polyunsaturated fatty acids, vitamin E and mineral elements).

Preventive interventions against neuroinflammation seem to be able to interfere with neurodegeneration, enhance the antioxidative defense and lower the risk and incidence of age-related diseases, such as cardiovascular and neurodegenerative diseases. It should be noted that dietary-supplementation-based strategies have been demonstrated to be effective in subjects with mild cognitive impairment, or directly in metabolic disorders in which a specific enzymatic deficit may require targeted dietary restrictions. 

In some studies, adjunctive supplementation has also been demonstrated to improve depression, which is a marked benefit considering the comorbidity between cognitive impairment/dementia and depression.

Dr. Andrea Domenico Praticò
Prof. Dr. Martino Ruggieri
Guest Editors

Manuscript Submission Information

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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

  • neurological disorders
  • neurodegenerative disorders
  • diet
  • food
  • free radicals
  • anti-oxidants

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Published Papers (1 paper)

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Research

14 pages, 255 KB  
Article
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring
by Manuela Lo Bianco, Roberta Leonardi, Alessia Migliore, Evelina Moliteo, Monica Sciacca, Sergio Rinella, Maria Grazia Pappalardo, Luisa La Spina, Marianna Messina, Riccardo Iacobacci, Martino Ruggieri, Concetta Meli and Agata Polizzi
Nutrients 2025, 17(17), 2892; https://doi.org/10.3390/nu17172892 - 7 Sep 2025
Viewed by 790
Abstract
Background: Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to hyperphenylalaninemia (HPA). Untreated, elevated phenylalanine (Phe) levels cause severe neurocognitive, developmental, and psychiatric complications. Management relies on a Phe-restricted [...] Read more.
Background: Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to hyperphenylalaninemia (HPA). Untreated, elevated phenylalanine (Phe) levels cause severe neurocognitive, developmental, and psychiatric complications. Management relies on a Phe-restricted diet, which is challenging to maintain, particularly in adolescents and adults. Sapropterin dihydrochloride, a synthetic form of tetrahydrobiopterin (BH4), can enhance residual PAH activity, lowering blood Phe levels and increasing dietary tolerance in responsive patients. However, real-world alignment with best practices remains underexplored. This study aims to report a tertiary referral center’s experience with sapropterin treatment in PKU and assess adherence to international guidelines. Methods: We retrospectively analyzed 23 PKU patients treated with sapropterin from 2007 to 2025. Patients with baseline Phe levels of 360–2000 µmol/L underwent a 10 mg/kg/day loading test over two weeks. Responsiveness was defined as a ≥30% reduction in blood Phe levels. Phe levels were measured pre- and post-test, and dietary tolerance was evaluated. Adherence to best practices was critically reviewed. Results: All patients showed significant Phe reductions (mean 71.43%, p < 0.0001), exceeding responsiveness thresholds. Most achieved substantial increases in dietary Phe tolerance, with three patients partially responsive (800–1200 mg/day). Responsiveness was unrespectful of the patient’s genotype, for those individuals for whom this was known (8/23 patients). Although effective, the test dose and duration differed from guideline recommendations (20 mg/kg/day). Neuropsychological and QoL assessments were not systematically performed, representing a key limitation. Conclusions: Sapropterin dihydrochloride effectively identified responders and improved dietary flexibility even with lower dosing protocols. Greater adherence to international standards, particularly regarding long-term neuropsychological monitoring, is needed to optimize patient care. Full article
(This article belongs to the Special Issue Therapeutic Opportunities for Food Supplements in Neurodegenerative Disease (2nd Edition))
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