Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease

Abstract

Objective: An anaplerotic diet with the odd-chain triglyceride (triheptanoin-C7TG) supplementation was tested as a therapy for Adult Polyglucosan Body Disease (APBD) and is currently being assessed for various metabolic disorders. The aim of this study was to determine any unknown long-term effect of C7TG supplementation on the nutritional status, body composition, resting energy expenditure and biochemical parameters of two siblings with APBD.

Methods: Two adult siblings with APBD were treated over a 2-year period with a high fat, low carbohydrate diet, with C7TG oil representing about 30% of the daily caloric intake. We carried out a long-term longitudinal study to determine weight, height, waist circumference; total, intra and extra cellular water by bioimpedance; body fat, lean mass, and bone mineral density by DEXA; resting energy expenditure by indirect calorimeter; glucose and lipid profiles.

Results: C7TG supplementation failed to prevent APBD progression, corroborating recent literature. However, long-term C7TG supplementation did not produce any appreciable changes in nutritional status, body composition, resting energy expenditure or biochemical parameters, and no evidence was found of potential adverse effects.

Conclusions: Our data suggest that maintenance of C7TG over a 2-year period still leaves a good safety profile in terms of nutritional status, body composition, resting energy expenditure, and biochemical parameters. However further studies involving larger sample sizes, also other diseases, are needed for a deeper understanding of its long-term effects.

Keywords:

• Adult polyglucosan body disease
• triheptanoin
• ketogenic diet
• long-term effects
• nutritional status

Acknowledgements

Ultragenyx Pharmaceutical, Inc. provided triheptanoin drug supply via Compassionate Use Request “UX007-IST064”.

We thank the patients for everything we could learn from their experience and are grateful for their consent to publish this case.

We also thank Mrs. Barbara Carey for the English revision of the manuscript.

Disclosure statement

All authors declare that they have no competing interests.

Authors’ contributions

RDA carried out data collection, interpretation of data and drafted the manuscript; AL contributed in manuscript drafting and revising; SR, GS and EM carried out data collection; ES and AB carried out study design and manuscript drafting; SB carried out study design, interpretation of data and revised the manuscript.

Additional information

Funding

Internal funds of the International Center for the Assessment of Nutritional Status (ICANS), University of Milan, supported this research.