Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

Alessandro Rossi,Pietro Strisciuglio,Serena Gasperini,Foekje De Boer,Daniela Melis,Alice Dianin,Carmen Campana,Chiara Montanari,Rossella Parini,Vanessa B Bastek,Sabrina Paci,Arianna Maiorana,Giancarlo Parenti,Andrea Bordugo,Surekha Pendyal,Miriam Rigoldi,Priya S Kishnani,Irene J Hoogeveen,U Meyer ,Terry G J Derks

doi:10.1002/jimd.12224

Abstract

SummaryA potential role of dietary lipids in the management of hepatic glycogen storage diseases (GSDs) has been proposed, but no consensus on management guidelines exists. The aim of this study was to describe current experiences with dietary lipid manipulations in hepatic GSD patients. An international study was set up to identify published and unpublished cases describing hepatic GSD patients with a dietary lipid manipulation. A literature search was performed according to the Cochrane Collaboration methodology through PubMed and EMBASE (up to December 2018). All delegates who attended the dietetics session at the IGSD2017, Groningen were invited to share unpublished cases. Due to multiple biases, only data on GSDIII were presented. A total of 28 cases with GSDIII and a dietary lipid manipulation were identified. Main indications were cardiomyopathy and/or myopathy. A high fat diet was the most common dietary lipid manipulation. A decline in creatine kinase concentrations (n = 19, P < .001) and a decrease in cardiac hypertrophy in paediatric GSDIIIa patients (n = 7, P < .01) were observed after the introduction with a high fat diet. This study presents an international cohort of GSDIII patients with different dietary lipid manipulations. High fat diet may be beneficial in paediatric GSDIIIa patients with cardiac hypertrophy, but careful long‐term monitoring for potential complications is warranted, such as growth restriction, liver inflammation, and hepatocellular carcinoma development.

Highlights

Glycogen storage diseases (GSD) are inborn errors of glycogen synthesis or degradation. a wide spectrum of clinical and biochemical presentation is observed, GSD are usually classified into hepatic and muscle GSD
GSDIII patients show a myopathic phenotype with skeletal muscle involvement and/or cardiomyopathy (Weinstein et al 2018)
The role of lipids has not been systematically assessed and the current guidelines do not provide clear indications for their use (Rake et al 2002; Visser et al 2003; Kishnani et al 2010, 2014, 2019). This systematic literature study and retrospective international multi-center cohort study presents that a high fat diet could be considered in pediatric GSDIII patients with cardiomyopathy

Summary

Introduction

Glycogen storage diseases (GSD) are inborn errors of glycogen synthesis or degradation. a wide spectrum of clinical and biochemical presentation is observed, GSD are usually classified into hepatic and muscle GSD. Management guidelines have been published for GSD subtypes Ia (Rake et al 2002; Kishnani et al 2014), Ib (Visser et al 2003), III (Kishnani et al 2010), and VI and IX together (Kishnani et al 2019). Dietary management is the cornerstone of treatment for hepatic GSD patients to maintain normoglycemia, prevent secondary metabolic derangements and long-term complications. Several case reports have described beneficial effects of dietary lipid manipulations in hepatic GSD patients, including (modified) ketogenic diets and medium-chain triglyceride (MCT) enrichment (Das et al 2010; Nagasaka et al 2007; Valayannopoulos et al 2011; Brambilla et al 2014; Mayorandan et al 2014). The role of dietary lipids as a third macronutrient in dietary management is still controversial (Derks and van Rijn 2015)

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