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Nutrition in adult patients with selected lysosomal storage diseases

Authors :
Francesca Carubbi
Antonio Barbato
Alberto B. Burlina
Francesco Francini
Renzo Mignani
Elena Pegoraro
Linda Landini
Gianluca De Danieli
Stefano Bruni
Pasquale Strazzullo
Publication Year :
2021

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.

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....e28b75b570069f79e155a76520358ed4