scholarly journals Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing

2019 ◽  
Vol 36 (2) ◽  
Author(s):  
Sibtain Ahmed ◽  
Bushra Afroze
Keyword(s):  
Liver Biopsy ◽  
Glycogen Synthesis ◽  
Cost Effective ◽  
Glycogen Storage ◽  
Diagnostic Approach ◽  
Molecular Testing ◽  
Storage Diseases ◽  
Creative Commons ◽  
Gene Testing ◽  
Glycogen Storage Diseases

The glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. The traditional diagnostic approach is based on the invasive hepatic or muscle biopsies, which are neither cost effective nor convenient. Molecular (gene testing) has emerged over the course of past few years as a robust alternative diagnostic tool, which not only confirms the diagnosis of GSDs but also clearly differentiates the types of GSDs allowing the initiation of the type-specific appropriate treatment for the particular type of GSDs. The aim of this update is to highlight the limitations of undertaking a liver biopsy for the diagnosis of GSDs; and to further describe the pros of the molecular testing for better patient centered care. doi: https://doi.org/10.12669/pjms.36.2.1310 How to cite this:Ahmed S, Afroze B. Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing. Pak J Med Sci. 2020;36(2):---------. doi: https://doi.org/10.12669/pjms.36.2.1310 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

scholarly journals Renal Calculi as Initial Presenting Symptom of Glycogen Storage Disease (Type 1 A) in Early Infancy

2020 ◽  
Vol 10 (01) ◽  
pp. e45-e47
Author(s):  
Nida Mirza ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Case Reports ◽  
Glycogen Synthesis ◽  
Renal Stones ◽  
Renal Calculi ◽  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

AbstractGlycogen storage diseases are a group of heterogeneous metabolic disorders that result from a defect in enzymatic pathway of either glycogen synthesis or glycogen degradation. Here we are reporting a case of glycogen storage diseases type 1 with renal stone as initial manifestation of disease at 2 months of age. There were case reports of recurrent renal calculi in older age group with this disease and considered to be arisen due to metabolic derangements. Although the exact mechanism of renal stones in glycogen storage disease is not clear, in this unique case occurrence of renal stones at 2 months of age suggests that the pathogenesis of renal calculi is probably multifactorial or a part of disease.

scholarly journals Mechanism of glycogen synthase inactivation and interaction with glycogenin

2021 ◽  
Author(s):  
Laura Marr ◽  
Dipsikha Biswas ◽  
Leonard A Daly ◽  
Christopher Browning ◽  
John Pollard ◽  
...  
Keyword(s):  
Glycogen Synthase ◽  
Glycogen Synthesis ◽  
Glycogen Metabolism ◽  
Glycogen Storage ◽  
Moderate Increase ◽  
Storage Diseases ◽  
Future Studies ◽  
Glycogen Storage Diseases ◽  
Structure Lead

The macromolecule glycogen is the major glucose reserve in eukaryotes and defects of glycogen metabolism and structure lead to glycogen storage diseases and neurodegeneration. Glycogenesis begins with self-glucosylation of glycogenin (GN), which recruits glycogen synthase (GS). GS is activated by glucose-6-phosphate (G6P) and inactivated by phosphorylation, but how these opposing processes are coupled is unclear. We provide the first structure of phosphorylated human GS-GN complex revealing an autoinhibited GS tetramer flanked by two GN dimers. Phosphorylated N- and C-terminal tails from two GS protomers converge to form dynamic "spike" regions, which are buttressed against GS regulatory helices. This keeps GS in a constrained "tense" conformation that is inactive and more resistant to G6P activation. Mutagenesis that weaken the interaction between the regulatory helix and phosphorylated tails leads to a moderate increase in basal/unstimulated GS activity, supporting the idea that phosphorylation contributes to GS inactivation by constraining GS inter-subunit movement. We propose that multivalent phosphorylation supports GS autoinhibition through interactions from a dynamic "spike" region, thus allowing a "tuneable rheostat" for regulating GS activity. Our structures of human GS-GN provide new insights into the regulation of glycogen synthesis, facilitating future studies of glycogen storage diseases.

scholarly journals Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies

2021 ◽  
Vol 10 (9) ◽  
pp. 1954
Author(s):  
Riccardo Vio ◽  
Annalisa Angelini ◽  
Cristina Basso ◽  
Alberto Cipriani ◽  
Alessandro Zorzi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Restrictive Cardiomyopathy ◽  
Glycogen Storage ◽  
Left Ventricular ◽  
Pathophysiological Mechanism ◽  
Storage Diseases ◽  
Glycogen Storage Diseases ◽  
Similar Genetic Background ◽  
Ventricular Wall Thickness ◽  
And Storage

Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) have a similar genetic background as they are both caused mainly by variants in sarcomeric genes. These “sarcomeric cardiomyopathies” also share diastolic dysfunction as the prevalent pathophysiological mechanism. Starting from the observation that patients with HCM and primary RCM may coexist in the same family, a characteristic pathophysiological profile of HCM with restrictive physiology has been recently described and supports the hypothesis that familiar forms of primary RCM may represent a part of the phenotypic spectrum of HCM rather than a different genetic cardiomyopathy. To further complicate this scenario some infiltrative (amyloidosis) and storage diseases (Fabry disease and glycogen storage diseases) may show either a hypertrophic or restrictive phenotype according to left ventricular wall thickness and filling pattern. Establishing a correct etiological diagnosis among HCM, primary RCM, and hypertrophic or restrictive phenocopies is of paramount importance for cascade family screening and therapy.

A novel starch for the treatment of glycogen storage diseases

2007 ◽  
Vol 30 (3) ◽  
pp. 350-357 ◽  
Author(s):  
K. Bhattacharya ◽  
R. C. Orton ◽  
X. Qi ◽  
H. Mundy ◽  
D. W. Morley ◽  
...  
Keyword(s):  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases ◽  
Novel Starch

The Dyslipidoses, Raúl Fleischmajer. Springfield, Thomas, 1960, 509 pp., $16.00

PEDIATRICS ◽  
1960 ◽  
Vol 26 (6) ◽  
pp. 914-914
Author(s):  
Benjamin H. Landing
Keyword(s):  
Fatty Acids ◽  
Lipid Metabolism ◽  
Glycogen Storage ◽  
General Survey ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

This book begins with a general survey of the biochemistry and metabolism of fatty acids, glycerolipids, phospholipids, sphingolipids and cholesterol. A number of diseases involving "synthesis, transport or deposit" of these lipids are then reviewed, not including disorders of metabolism of steroids other than cholesterol, nor the carotenoids. The descriptions of clinical and pathologic aspects of the various diseases of lipid metabolism vary from good to excellent, and the author demonstrates both judgement and willingness to take a stand in some of the more controversial fields, such as the glycogen storage diseases.

The Glycogen Storage Diseases and Related Disorders

2012 ◽  
pp. 115-139 ◽  
Author(s):  
Pascal Laforêt ◽  
David A. Weinstein ◽  
G. Peter A. Smit
Keyword(s):  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases
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