Glycogen Storage Disease Type XV

Last update 23 Jan 2025

Basic Info

Synonyms

GSD type 15, GSD type XV, GSD with severe cardiomyopathy due to glycogenin deficiency

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Introduction

An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. Caused by compound heterozygous mutation in the glycogenin 1 (GYG1) gene, which encodes glycogenin-1, on chromosome 3q24.

Clinical Trials associated with Glycogen Storage Disease Type XV

NCT02635269

/ Unknown statusNot ApplicableIIT

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.

Start Date01 Jan 2016

Sponsor / Collaborator

Rigshospitalet

100 Clinical Results associated with Glycogen Storage Disease Type XV

100 Translational Medicine associated with Glycogen Storage Disease Type XV

0 Patents (Medical) associated with Glycogen Storage Disease Type XV

Literatures (Medical) associated with Glycogen Storage Disease Type XV

01 Dec 2024·Carbohydrate Polymers

Glycogen metabolism and structure: A review

Review

Author: Neoh, Galex K.S. ; Dong, Xin ; Tan, Xinle ; Roura, Eugeni ; Neoh, Galex K S ; Gilbert, Robert G ; Gilbert, Robert G. ; Chen, Si

Glycogen is a glucose polymer that plays a crucial role in glucose homeostasis by functioning as a short-term energy storage reservoir in animals and bacteria. Abnormalities in its metabolism and structure can cause several problems, including diabetes, glycogen storage diseases (GSDs) and muscular disorders. Defects in the enzymes involved in glycogen synthesis or breakdown, resulting in either excessive accumulation or insufficient availability of glycogen in cells seem to account for the most common pathogenesis. This review discusses glycogen metabolism and structure, including molecular architecture, branching dynamics, and the role of associated components within the granules. The review also discusses GSD type XV and Lafora disease, illustrating the broader implications of aberrant glycogen metabolism and structure. These conditions also impart information on important regulatory mechanisms of glycogen, which hint at potential therapeutic targets. Knowledge gaps and potential future research directions are identified.

06 Jan 2021·Human Molecular GeneticsQ2 · BIOLOGY

Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome

Q2 · BIOLOGY

Article

Author: Guinovart, Joan J ; Duran, Jordi ; Pérez-Gil, Jesús ; López-Rodríguez, Elena ; Hernández-Álvarez, María Isabel ; Olmeda, Bárbara ; Aguilera, Mònica ; Prats, Neus ; Testoni, Giorgia

AbstractThe glycogenin knockout mouse is a model of Glycogen Storage Disease type XV. These animals show high perinatal mortality (90%) due to respiratory failure. The lungs of glycogenin-deficient embryos and P0 mice have a lower glycogen content than that of wild-type counterparts. Embryonic lungs were found to have decreased levels of mature surfactant proteins SP-B and SP-C, together with incomplete processing of precursors. Furthermore, non-surviving pups showed collapsed sacculi, which may be linked to a significantly reduced amount of surfactant proteins. A similar pattern was observed in glycogen synthase1-deficient mice, which are devoid of glycogen in the lungs and are also affected by high perinatal mortality due to atelectasis.These results indicate that glycogen availability is a key factor for the burst of surfactant production required to ensure correct lung expansion at the establishment of air breathing. Our findings confirm that glycogen deficiency in lungs can cause respiratory distress syndrome and suggest that mutations in glycogenin and glycogen synthase 1 genes may underlie cases of idiopathic neonatal death.

01 Jan 2021·Revista Española de Cardiología (English Edition)

Cardiac phenotype in glycogen storage disease type XV: a rare cardiomyopathy to bear in mind

Author: Ejarque-Doménech, Ismael ; Martínez-Dolz, Luis ; Zorio, Esther ; Braza-Boïls, Aitana ; Muelas, Nuria ; Mancheño, Nuria

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Glycogen Storage Disease Type XV

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