Impact of glycogen storage disease type I on adult daily life: a survey

Sven F Garbade,Sarah C Grünert,Viviane Ederer,Udo Wendel,Ute Spiekerkoetter,Peter Burgard,Dorothea Haas

doi:10.1186/s13023-021-02006-w

Abstract

BackgroundGlycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carbohydrates, nocturnal tube feeding or night-time uncooked cornstarch intake, regular blood glucose monitoring and the handling of emergency situations. With improved treatment, most patients nowadays survive into adulthood. Little research has been performed on the impact of GSD I on daily life, especially in adult patients.ResultsIn this multi-centre study we assessed the impact of GSD I on adult daily life in 34 GSD I patients (27 GSD Ia, 7 GSD Ib) between 17 and 54 years (median 26 years) using a self-designed questionnaire that specifically focused on different aspects of daily life, such as job situation, social life, sports, travelling, composition of the household, night-time and day-time dietary management and disease monitoring as well as the patient’s attitude towards the disease. At the time of investigation, the majority of patients either attended school or university or were employed, while 3 patients (9%) were out of work. Most patients ranked GSD I as a disease with moderate severity and disease burden. Dietary treatment was considered challenging by many, but the vast majority of patients considered life with GSD I as well-manageable.ConclusionsAlthough the management of GSD I poses a significant burden on daily life, most patients live an independent adult life, have a positive attitude towards their disease and seem to cope well with their situation.

Highlights

Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly
Two subtypes are clinically and genetically distinguished: GSD Ia is caused by variations in G6PC resulting in deficiency of glucose-6-phosphatase (G6P), while GSD Ib is due to deficiency of the
GSD I remains a challenging disorder as treatment requires meticulous adherence and planning with high impact on daily life and quality of live (QoL)

Summary

Introduction

Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carbohydrates, nocturnal tube feeding or night-time uncooked cornstarch intake, regular blood glucose monitoring and the handling of emergency situations. Glycogen storage disease type I (GSD I, OMIM 613742) is a rare autosomal recessive disorder of carbohydate metabolism. Treatment aims to prevent hypoglycaemia, thereby minimizing the secondary metabolic derangements and clinical symptoms. This requires regular meals with a defined carbohydrate intake and the use of complex carbohydrates. The frequency of long-term complications such as hepatic adenomas, osteoporosis, focal segmental glomerulosclerosis, and small fiber neuropathy has markedly decreased with improvements in therapy and good metabolic control [5]

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