Abstract BACKGROUND Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic condition. Limited pre-clinical and clinical data suggests that certain metabolic disturbances, body composition differences and nutritional deficiencies may be more prevalent in people with NF1. Data on the role of dietary patterns in people with NF1 and their effects in NF1-related manifestations is scarce. METHODS A systematic literature review was conducted; the MeSH database of PubMed was utilized to identify controlled vocabulary and key words associated with NF1, diet, and nutrition. These terms were combined using boolean operators to query PubMed, Embase, PLOS One, and Cochrane. The inclusion criteria consisted of articles in English, full text available, human studies, published between 2000-2024. The results were screened and key details were extracted. RESULTS 394 published articles were identified, out of which 15 met the inclusion criteria. 379 papers were excluded due to duplication or not meeting all inclusion criteria. Manuscripts included case reports, case series, retrospective and prospective studies, including a phase 2a clinical trial that only included six participants. Topics included vitamin D and bone metabolism, nutritional supplements, glucose metabolism, and nutritional intake. CONCLUSIONS Data regarding the effects of diet or nutritional supplements in people with NF1 is limited. Available studies suggest that a diet composed of therapeutic elements, including but not limited to, medium-chain fatty acids, calcium, and vitamin D, aids in bone growth and density, and muscle lipolysis. A single clinical trial suggests that L-carnitine supplementation is safe and feasible and might result in improved functional muscle performance in children with NF1. These conclusions might only be applicable to a small population of people with NF1 and did not result in conclusive significant clinical benefit. Further research is needed to better comprehend the role that nutrition plays in patients’ quality of life.
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