Are patients affected by mitochondrial disorders at nutritional risk?

Aubry, Emilie; Aeberhard, Carla; Bally, Lia; Nuoffer, Jean-Marc; Risch, Lorenz; Mühlebach, Stefan; Burgunder, Jean-Marc; Stanga, Zeno (2018). Are patients affected by mitochondrial disorders at nutritional risk? Nutrition, 47, pp. 56-62. Elsevier 10.1016/j.nut.2017.09.011

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Rationale Patients suffering from mitochondrial disorders (MD) frequently present gastrointestinal complaints, mainly gastrointestinal dysmotility, that interfere with their food intake. Deterioration of their nutritional state may worsen the course of the disease. Our aims were to evaluate a simple screening tool to identify nutritional risk and to perform an extended nutritional assessment to explore the potential presence of deficiencies in this population compared to controls. Methods A prospective cohort study comparing outpatients with MD to matched healthy controls was conducted. Nutritional screening and full nutritional assessments were performed, including quantitative and qualitative dietary habits (7-day food log), body function and composition, resting energy expenditure and quality of life (QoL) measurements. Blood and 24-hour urine analyses were performed in the patient group. Results Twenty-six subjects were included: 11 in the patient group and 15 in the control group. No patient was screened as malnourished according to the nutritional risk score NRS-2002, but compared with controls, they had a significantly lower muscle mass (p=0.04), reduced handgrip strength (p=0.07), significant changes in QoL and pathologic creatinine height index, which indicate malnutrition. The patients also had a significantly lower protein intake (p=0.01). Conclusion According to the current definition from the international societies of clinical nutrition and metabolism, all patients fulfilled the criteria for manifest malnutrition. Thus, the usual nutritional screening tool is less sensitive for chronically ill outpatients. These results provide a rationale to increase protein intake and adapt patients’ energy supplies to improve bodily symptoms and QoL.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Endocrinology, Diabetology and Clinical Nutrition
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
08 Faculty of Science > Department of Chemistry, Biochemistry and Pharmaceutical Sciences (DCBP)
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Aeberhard, Carla, Bally, Lia Claudia, Nuoffer, Jean-Marc, Risch, Lorenz, Mühlebach, Stefan, Burgunder, Jean-Marc, Stanga, Zeno


600 Technology > 610 Medicine & health
500 Science > 570 Life sciences; biology
500 Science > 540 Chemistry








Markus Laimer

Date Deposited:

22 Feb 2018 13:14

Last Modified:

02 Mar 2023 23:30

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