Nutritional support in mitochondrial diseases: the state of the art

E Rinninella, M Pizzoferrato, M Cintoni, S Servidei, M C Mele

Research output: Contribution to journalArticle

Abstract

Mitochondrial diseases are a group of rare multisystem disorders characterized by genetic heterogeneity and pleomorphic clinical manifestations. The clinical burden may be heavy for patients and their caregivers. There are no therapies of proven efficacy until now and a multidisciplinary supportive care is therefore necessary. Since the common pathogenic mechanism is the insufficient energy production by defective mitochondria, nutrition may play a crucial role. However, no guidelines are still available. The article reports the current evidence, highlighting nutrition both as support and as therapy. The estimate of nutritional status, energy needs and nutritional behaviors are firstly discussed. Then, we go in-depth on the scientific rationale and the clinical evidence of the use of anti-oxidants and enzyme-cofactors in the clinical practice. In particular, we analyze the role of Coenzyme Q10, Creatine monohydrate, α-lipoic acid, riboflavin, arginine and citrulline, folinic acid, carnitine, vitamin C, K, and E. Every attempt at nutritional intervention should be made knowing patient's disease and focusing on his/her energy and nutrients' requirements. For this reason, clinicians expert in mitochondrial medicine and clinical nutritionists should work together to ameliorate care in these fragile patients.

Original languageEnglish
Pages (from-to)4288-4298
Number of pages11
JournalEuropean Review for Medical and Pharmacological Sciences
Volume22
Issue number13
DOIs
Publication statusPublished - Jul 2018

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Mitochondrial Diseases
Nutritional Support
coenzyme Q10
Thioctic Acid
Citrulline
Genetic Heterogeneity
Nutritionists
Leucovorin
Vitamin K
Riboflavin
Creatine
Carnitine
Clinical Medicine
Coenzymes
Nutritional Status
Vitamin E
Oxidants
Caregivers
Ascorbic Acid
Arginine

Cite this

Nutritional support in mitochondrial diseases : the state of the art. / Rinninella, E; Pizzoferrato, M; Cintoni, M; Servidei, S; Mele, M C.

In: European Review for Medical and Pharmacological Sciences, Vol. 22, No. 13, 07.2018, p. 4288-4298.

Research output: Contribution to journalArticle

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