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Background: Mitochondrial disease (MD) is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Malnutrition in patients with MD may lead to increased mitochondrial dysfunction, which may enhance already existing symptoms. The aim of this study was to investigate whether patients with MD have an insufficient or unbalanced food intake and to establish which nutrients and product groups are particularly compromised in this patient group., Methods: In this observational, cross-sectional, retrospective study, sixty 3-day nutrition diaries of adult patients with MD were analyzed and compared with the Dutch recommended daily allowance and the Dutch National Food Consumption Survey (DNFCS)., Results: The intake of all macronutrients and micronutrients of patients with MD was significantly different from Dutch recommended daily allowance values with the exception of fat and iron. In particular, protein and calcium intake in patients with MD was significantly lower when compared with the DNFCS. Interindividual differences were high. Also, intake of fiber, sugars, saturated fat, and vitamin D differed from recommendations for the overall population. In comparison with DNFCS, the intake of dairy products and drinks was significant lower in patients., Conclusions: Our study demonstrates that many patients with MD have an inadequate diet. Specifically, intake of protein, calcium, dairy products, and fluids were low. Overall, eating a healthy diet seems as difficult for patients with MD as for the general population. Since interindividual differences are high, individual diet counseling is recommended for all adult patients with MD., (© 2017 American Society for Parenteral and Enteral Nutrition.)

This study investigated which methods patients and parents used to determine phenylalanine (Phe) intake and the relationship between the methods applied, age, and blood Phe concentration, as this practice had not been studied before in relation to metabolic control. A questionnaire was sent to 327 Dutch phenylketonuria patients (age 0-29 years) to investigate the method used to determine Phe intake (either by estimation, exact measurement, or a combination of both). Mean blood Phe concentration of each individual patient was related to the method reported to be used. Three different age groups (<10 years, > or =10-15 years, and > or =16 years) were distinguished. The response rate for the questionnaires was 73%. In these 188 patients, data for both Phe concentrations and questionnaires could be used. Of these, 75 used exact measurement, 75 used estimation, and 38 used both methods. The number of patients that estimated Phe intake clearly increased with age. Whatever method was used, an increase in Phe concentrations was seen with age. During childhood, exact measurement was used more frequently, and from adolescence on estimation was used more frequently. The method (exact measurement and/or estimation) did not result in statistically different Phe concentrations in any of the three age groups, although blood Phe concentration tended to be lower in adolescence using exact measurement. Data suggest that estimation and exact measurement of Phe intake are both reliable methods. Therefore, in addition to exact measurement, patients should be instructed in both methods at an early age, so that both methods can be used adequately.