Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
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...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
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MDPI AG
2021-10-01
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| Series: | Nutrients |
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| Online Access: | https://www.mdpi.com/2072-6643/13/11/3828 |
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| author | Terry G. J. Derks 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 Naik Gupta Vassili Valayannopoulos John Mitchell |
| author_facet | Terry G. J. Derks 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 Naik Gupta Vassili Valayannopoulos John Mitchell |
| author_sort | Terry G. J. Derks |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T05:11:48Z |
| format | Article |
| id | doaj.art-49373e0a313c4a1bbb2b3940a73fdda6 |
| institution | Directory Open Access Journal |
| issn | 2072-6643 |
| language | English |
| last_indexed | 2024-03-10T05:11:48Z |
| publishDate | 2021-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Nutrients |
| spelling | doaj.art-49373e0a313c4a1bbb2b3940a73fdda62023-11-23T00:46:30ZengMDPI AGNutrients2072-66432021-10-011311382810.3390/nu13113828Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet NeedsTerry G. J. Derks0David F. Rodriguez-Buritica1Ayesha Ahmad2Foekje de Boer3María L. Couce4Sarah C. Grünert5Philippe Labrune6Nerea López Maldonado7Carolina Fischinger Moura de Souza8Rebecca Riba-Wolman9Alessandro Rossi10Heather Saavedra11Rupal Naik Gupta12Vassili Valayannopoulos13John Mitchell14Division of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The NetherlandsDepartment 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, USADepartment of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI 48109, USADivision of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The NetherlandsIDIS, CIBERER, MetabERN, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, SpainDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, GermanyAPHP, Université Paris-Saclay, Hôpital Antoine-Béclère, 92140 Clamart, FrancePiera Health Center, Catalan Institute of Health, 08007 Barcelona, SpainMedical Genetics Service, HCPA, Porto Alegre 90035-903, BrazilConnecticut Children’s Medical Center, Department of Pediatrics, Division of Endocrinology, University of Connecticut, Farmington, CT 06032, USADivision of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The NetherlandsDepartment 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, USAUltragenyx Pharmaceutical Inc., Novato, CA 94949, USAUltragenyx Pharmaceutical Inc., Novato, CA 94949, USADepartment of Pediatrics, Division of Pediatric Endocrinology, Montreal Children’s Hospital, McGill University Health Center, Montreal, QC H4A 3J1, CanadaGlycogen 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.https://www.mdpi.com/2072-6643/13/11/3828glycogen storage disease type Iadietary treatmentuncooked cornstarchburden of diseaseunmet needlong-term complications |
| spellingShingle | Terry G. J. Derks 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 Naik Gupta Vassili Valayannopoulos John Mitchell Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs Nutrients glycogen storage disease type Ia dietary treatment uncooked cornstarch burden of disease unmet need long-term complications |
| title | Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_full | Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_fullStr | Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_full_unstemmed | Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_short | Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs |
| title_sort | glycogen storage disease type ia current management options burden and unmet needs |
| topic | glycogen storage disease type Ia dietary treatment uncooked cornstarch burden of disease unmet need long-term complications |
| url | https://www.mdpi.com/2072-6643/13/11/3828 |
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