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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

1
Division of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
2
Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children’s Memorial Hermann Hospital, Houston, TX 77030, USA
3
Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI 48109, USA
4
IDIS, CIBERER, MetabERN, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain
5
Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany
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APHP, Université Paris-Saclay, Hôpital Antoine-Béclère, 92140 Clamart, France
7
Inserm U 1195, Paris-Saclay University, 94276 Le Kremlin Bicêtre, France
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Piera Health Center, Catalan Institute of Health, 08007 Barcelona, Spain
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Autonomous University of Barcelona, 08193 Barcelona, Spain
10
Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil
11
Connecticut Children’s Medical Center, Department of Pediatrics, Division of Endocrinology, University of Connecticut, Farmington, CT 06032, USA
12
Department of Translational Medicine, Section of Paediatrics, University of Naples “Federico II”, 80131 Naples, Italy
13
Ultragenyx Pharmaceutical Inc., Novato, CA 94949, USA
14
Department of Pediatrics, Division of Pediatric Endocrinology, Montreal Children’s Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada
*
Author to whom correspondence should be addressed.
Academic Editor: Iris Scala
Nutrients 2021, 13(11), 3828; https://doi.org/10.3390/nu13113828
Received: 30 September 2021 / Revised: 21 October 2021 / Accepted: 22 October 2021 / Published: 27 October 2021
(This article belongs to the Special Issue Advances in Inherited Metabolic Disorders)
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations. Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disease itself, its management and monitoring have significant physical, psychological and psychosocial burden on individuals and parents/caregivers. Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance. UCCS therapy is imprecise, does not treat the cause of disease, may trigger secondary metabolic manifestations and may not prevent long-term complications. We review the importance of and challenges associated with achieving good glycaemic/metabolic control in individuals with GSDIa and how this should be balanced with age-specific psychosocial development towards independence, management of anxiety and preservation of quality of life (QoL). The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed. View Full-Text
Keywords: glycogen storage disease type Ia; dietary treatment; uncooked cornstarch; burden of disease; unmet need; long-term complications; quality of life glycogen storage disease type Ia; dietary treatment; uncooked cornstarch; burden of disease; unmet need; long-term complications; quality of life
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Figure 1

MDPI and ACS Style

Derks, T.G.J.; Rodriguez-Buritica, D.F.; Ahmad, A.; de Boer, F.; Couce, M.L.; Grünert, S.C.; Labrune, P.; López Maldonado, N.; Fischinger Moura de Souza, C.; Riba-Wolman, R.; Rossi, A.; Saavedra, H.; Gupta, R.N.; Valayannopoulos, V.; Mitchell, J. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs. Nutrients 2021, 13, 3828. https://doi.org/10.3390/nu13113828

AMA Style

Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs. Nutrients. 2021; 13(11):3828. https://doi.org/10.3390/nu13113828

Chicago/Turabian Style

Derks, Terry G.J., David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal N. Gupta, Vassili Valayannopoulos, and John Mitchell. 2021. "Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs" Nutrients 13, no. 11: 3828. https://doi.org/10.3390/nu13113828

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