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

Derks, Terry G J; Rodriguez-Buritica, David; Ahmad, Ayesha; Boer, Foekje de; Couce, María L.; Grünert, Sarah C.; Labrune, Philippe; Maldonado, Nerea López; Souza, Carolina Fischinger Moura de; Riba-Wolman, Rebecca; Rossi, Alessandro; Saavedra, Heather; Gupta, Rupal Naik; Valayannopoulos, Vassili; Mitchell, John J.

doi:10.3390/nu13113828

Cited by 29 publications

(49 citation statements)

References 80 publications

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“…This last point is of special significance, since conservative treatment options for many IMDs can put a high psychosocial burden on patients and caregivers alike, often necessitating measures like permanent strict dietary management that conflict with many life choices. Adequately capturing these burdens with tailored patient reported outcome measures (PROMs) was often neglected in the past, but will become increasingly important going forward, since novel treatments directly addressing underlying disease causes will increasingly become available, with PROMs being an important measure for their efficacy ( 83 ).…”

Section: Discussionmentioning

confidence: 99%

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

et al. 2022

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Rare diseases, such as inherited metabolic diseases, have been identified as a health priority within the European Union more than 20 years ago and have become an integral part of EU health programs and European Reference Networks. Having the potential to pool data, to achieve sufficient sample size, to overcome the knowledge gap on rare diseases and to foster epidemiological and clinical research, patient registries are recognized as key instruments to evidence-based medicine for individuals with rare diseases. Patient registries can be used for multiple purposes, such as (1) describing the natural history and phenotypic diversity of rare diseases, (2) improving case definition and indication to treat, (3) identifying strategies for risk stratification and early prediction of disease severity (4), evaluating the impact of preventive, diagnostic, and therapeutic strategies on individual health, health economics, and the society, and (5) informing guideline development and policy makers. In contrast to clinical trials, patient registries aim to gather real-world evidence and to achieve generalizable results based on patient cohorts with a broad phenotypic spectrum. In order to develop a consistent and sustained framework for rare disease registries, uniform core principles have been formulated and have been formalized through the European Rare Disease Registration Infrastructure. Adherence to these core principles and compliance with the European general data protection regulations ensures that data collected and stored in patient registries can be exchanged and pooled in a protected environment. To illustrate the benefits and limitations of patient registries on rare disease research this review focuses on inherited metabolic diseases.

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Section: Discussionmentioning

confidence: 99%

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

et al. 2022

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“…Fasting test may still play a role in the diagnostic process of congenital hyperinsulinism. Yet, the development of safer and simpler diagnostic and monitoring tools for clinical research/care remains a compelling need ( 95 ).…”

Section: Discussion and Future Perspectivesmentioning

confidence: 99%

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review

Rossi

Rutten²,

Dijk³

et al. 2022

Front. Endocrinol.

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Hypoglycemia results from an imbalance between glucose entering the blood compartment and glucose demand, caused by a defect in the mechanisms regulating postprandial glucose homeostasis. Hypoglycemia represents one of the most common metabolic emergencies in childhood, potentially leading to serious neurologic sequelae, including death. Therefore, appropriate investigation of its specific etiology is paramount to provide adequate diagnosis, specific therapy and prevent its recurrence. In the absence of critical samples for biochemical studies, etiological assessment of children with hypoglycemia may include dynamic methods, such as in vivo functional tests, and continuous glucose monitoring. By providing detailed information on actual glucose fluxes in vivo, proof-of-concept studies have illustrated the potential (clinical) application of dynamic stable isotope techniques to define biochemical and clinical phenotypes of inherited metabolic diseases associated with hypoglycemia. According to the textbooks, individuals with glycogen storage disease type I (GSD I) display the most severe hypoglycemia/fasting intolerance. In this review, three dynamic methods are discussed which may be considered during both diagnostic work-up and monitoring of children with hypoglycemia: 1) functional in vivo tests; 2) in vivo metabolic profiling by continuous glucose monitoring (CGM); 3) stable isotope techniques. Future applications and benefits of dynamic methods in children with hypoglycemia are also discussed.

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“…As they elongate, the brancher enzyme attaches new lateral chains, which in turn elongate and branch. A full molecule of glycogen has a spheric shape, which can contain up to 30 000 glucose molecules [4,5 ▪▪ ].…”

Section: Metabolism Of Glycogenmentioning

confidence: 99%

Update on glycogen storage disease: primary hepatic involvement

Wright

Umaña

Ramirez

2022

Current Opinion in Pediatrics

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Purpose of reviewGlycogen storage disease is a group of disorders primarily characterized by hepatomegaly and fasting hypoglycemia. This group of disorders may also affect the muscle, kidneys, and neurodevelopment. With an overall prevalence of 1 : 20 000, GSDs are disorders that clinicians should diagnose in a timely manner because adequate management can prevent complications, such as neurodevelopmental delay and liver disease [1]. As there are numerous types of GSDs, being able to distinguish one type from another can be overwhelming. In this review, we focus on hepatic GSDs to provide a concise review of clinical presentation, diagnosis, and current management.Recent findingsGSDs are considered rare disorders, and one of the main challenges is the delay in diagnosis, misdiagnosis, or under diagnosis. However, with molecular genetic testing now readily available, confirming the diagnosis is no longer as difficult or invasive as it was in the past.SummaryCurrent therapy for this group of disorders requires maintaining stable glucose levels. Avoiding hypoglycemia, as well as hyperglycemia, is critical in managing these patients. Being able to distinguish the types of GSDs and understanding the specific treatments for each enzymatic defect will optimize patient care.

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

Cited by 29 publications

References 80 publications

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review

Update on glycogen storage disease: primary hepatic involvement

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