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Dietary modifications in patients receiving miglustat

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Journal of Inherited Metabolic Disease


Weight loss and gastrointestinal disturbances are often seen during miglustat therapy for lysosomal storage diseases. A retrospective analysis of data from a mixed group of patients treated with miglustat at two UK centres was performed to evaluate the effect of two different dietary interventions on body weight and gastrointestinal tolerability during the initial 6 months of miglustat therapy. Neurological outcomes in these patients are not discussed herein. Data were analysed from a total of 29 patients with varied neurolipidoses (21 children/adolescents; 8 adults). Negative mean changes in body weight were seen in children/adolescents on an unmodified diet (−8.1%), and in adults (−4.1%) and children/adolescents (−5.2%) on a low-lactose diet. Patients on the low-disaccharide diet showed a positive mean change in body weight (+2.0%), although there was high variability in this group. Non-parametric sub-analysis of median body-weight change in children/adolescents also showed high variability both within and between diet groups, with no statistically significant difference between the effects of different diets on body weight (p = 0.062). The low-lactose diet reduced gastrointestinal disturbances; single small doses of loperamide were required in some patients. Patients on the low-disaccharide diet showed the lowest frequency of gastrointestinal effects. In conclusion, simple dietary modifications allowed the maintenance of body-weight gain in line with normal growth potential during miglustat therapy in young patients with lysosomal storage diseases, and reduced gastrointestinal disturbances.

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T type 1 Gaucher disease

GM1 and GM2:

ganglioside M1 and M2


Niemann-Pick disease Type C


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The authors thank Matthew Reilly PhD, associated with InTouch Medical Ltd, sponsored by Actelion Pharmaceuticals Ltd, for editorial support in preparing the final draft of this manuscript for submission.

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Correspondence to H. Champion.

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Communicated by: Frits Wijburg

Competing interest: None declared.

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Champion, H., Ramaswami, U., Imrie, J. et al. Dietary modifications in patients receiving miglustat. J Inherit Metab Dis 33 (Suppl 3), 379–383 (2010).

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