1. Nutrition in adult patients with selected lysosomal storage diseases.
- Author
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Carubbi F, Barbato A, Burlina AB, Francini F, Mignani R, Pegoraro E, Landini L, De Danieli G, Bruni S, and Strazzullo P
- Subjects
- Humans, Lysosomal Storage Diseases diagnosis, Lysosomal Storage Diseases epidemiology, Lysosomal Storage Diseases physiopathology, Malnutrition diagnosis, Malnutrition epidemiology, Malnutrition physiopathology, Obesity diagnosis, Obesity epidemiology, Obesity physiopathology, Treatment Outcome, Energy Metabolism, Lysosomal Storage Diseases diet therapy, Malnutrition prevention & control, Nutritional Status, Nutritional Support, Obesity prevention & control
- Abstract
Lysosomal storage disorders (LSDs) are a group of clinically heterogeneous disorders affecting the function of lysosomes and are characterized by an accumulation of undigested substrates within several cell types. In recent years there have been substantial advances in supportive care and drug treatment for some LSDs, leading to improved patient survival, as seen in Gaucher, Pompe and Fabry disease and some Mucopolysaccharidoses; however, many symptoms still persist. Thus it is now even more important to improve patients' quality of life and reduce symptoms and comorbidities. One potential way of achieving this goal is through adjunct nutritional therapy, which is challenging as patients may be overweight with associated consequences, or malnourished, or underweight. Furthermore, drugs used to treat LSDs can modify the metabolic status and needs of patients. There are currently not enough data to make specific dietary recommendations for individual LSDs; however, suggestions can be made for managing clinical manifestations of the diseases, as well as treatment-associated adverse events. The metabolic and nutritional status of adult patients must be regularly assessed and individualized dietary plans may be created to cater to a patient's specific needs. Damage to the autophagic process is a common feature in LSDs that is potentially sensitive to dietary manipulation and needs to be assessed in clinical studies., Competing Interests: Declaration of competing interest Francesca Carubbi received honoraria for lectures, advisory board and meetings from Amgen, Sanofi, Shire and Amicus. Francesco Francini-Pesenti received honoraria for advisory boards and meetings from Sanofi. Elena Pegoraro has been a scientific advisory board or data safety monitoring board for PTC Therapeutics, Sarepta Therapeutics, Santhera Pharmaceuticals, Genzyme and Roche, received funding for travel and educational support from Genzyme and PTC Pharmaceuticals, received funding for travel support from Santhera and is receiving grant support from Santhera. Antonio Barbato received honoraria for lectures, advisory boards and meetings from Sanofi Genzyme and Takeda Shire. Renzo Mignani received honoraria for lectures, advisory boards and meetings from Sanofi-Genzyme, TakedaShire, Otsuka Pharmaceutical, and AmicusTherapeutics. Alberto B Burlina has received a speaker honoraria and travel support from Sanofi Genzyme, Actelion, Takeda, Nutricia, Danone, PIAM Medifood, Biomarin. Linda Landini has been an employee of Sanofi Genzyme. Gianluca De Danieli is an employee of Sanofi Genzyme. Stefano Bruni has been an employee of Sanofi Genzyme. Pasquale Strazzullo received honoraria and travel support as speaker and/or advisory board from Sanofi Genzyme and Takeda Shire., (Copyright © 2020 The Italian Diabetes Society, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.)
- Published
- 2021
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