Different clinical phenotypes warrant tailor made diets in patients with long chain fatty acid oxidation disorders

Irene L. Kok, RD1,2, Jeannette C. Bleeker, MD2,3, Sacha F. Ferdinandusse, PhD3, Gepke Visser, MD PhD2 1Department of Internal Medicine and Dermatology, Dietetics, Wilhelmina Children’s Hospital, UMCU, Utrecht 2Department of Metabolic Diseases, Wilhelmina Children’s Hospital, UMCU, Utrecht; 3Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands

Corresponding author contact information:

Irene Kok

E-mail: I.L.Kok-2@umcutrecht.nl Phone: 0031651835664

ABSTRACT

Introduction

Patients with long chain fatty acid oxidation disorders can be treated with a fat-restricted, MCT-supplemented diet. However, patients diagnosed by newborn screening and with mild phenotypes may not use a diet at all.

Aim

To evaluate current dietary strategies in patients with long chain fatty acid oxidation disorders.

Methods

Dietary intake was evaluated by a three day food record or dietary history. In addition, a questionnaire regarding use of supplements and medical nutrition, changes in the diet during illness or sports activities and the maximal feeding pause was scored by a research dietician.

Results

Forty-two patients were included (28 VLCADD, 6 LCHADD, 3 MTPD, 5 CPT2D). All patients had initially a prescribed maximum feeding pause. MCT supplementation was used by 33% of the VLCADD patients,

75% of the CPT2D and 100% of the LCHADD and MTPD patients. The use of MCT supplements did not correlate with the presence of complaints (e.g. hypoglycemia, fatigue, exercise intolerance, myoglobinuria, and/or cardiomyopathy). No difference was observed in BMI of patients < 18 years compared to their healthy peers. However patients >18 years were more often overweight.

Conclusion

Different dietary strategies are used especially by patients with VLCADD, most only use a diet during illness. Further investigations are needed to determine the optimal individual treatment strategies. Furthermore, caution is needed in the dietary advice to prevent overweight.