Symposium on Carbohydrate Metabolism

PEDIATRICS ◽  
1953 ◽  
Vol 12 (3) ◽  
pp. 338-338
Keyword(s):  
Carbohydrate Metabolism ◽  
Clinical Application ◽  
Glycogen Storage Disease ◽  
Enzymatic Synthesis ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Clinical Aspects ◽  
Electrolyte Balance ◽  
Synthesis And Degradation

The pediatrician will find a precise presentation of much valuable information on the physiologic, biochemical and clinical aspects of carbohydrate metabolism. Enzymatic synthesis and degradation of glycogen and the influence of hormones on carbohydrate metabolism and electrolyte balance are discussed by Drs. Carl F. Cori, Earl W. Sutherland, C. R. Park, A. Baird Hastings and Evan Calkins. The clinical application of these physiologic and biochemical aspects to glycogen storage disease, hypoglycemia and diabetic acidosis are discussed by Drs. Dorothy H. Andersen, Irvine McQuarrie and Allan M. Butler.

PGD for glycogen storage disease type IV: Birth of healthy twins following successful clinical application of a mutation-specific protocol

2010 ◽  
Vol 30 (2) ◽  
pp. 180-182
Author(s):  
Aspasia Destouni ◽  
Christina Vrettou ◽  
Joanne Traeger-Synodinos ◽  
Stephen Davies ◽  
Minas Mastrominas ◽  
...  
Keyword(s):  
Clinical Application ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Iv ◽  
Specific Protocol

scholarly journals mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Jingsong Cao ◽  
Minjung Choi ◽  
Eleonora Guadagnin ◽  
Maud Soty ◽  
Marine Silva ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Murine Model ◽  
Storage Disease ◽  
Liver Tumors ◽  
Glycogen Storage ◽  
Human Condition ◽  
Efficacy And Safety ◽  
Current Standard ◽  
Enzyme Replacement ◽  
Life Threatening

AbstractGlycogen Storage Disease 1a (GSD1a) is a rare, inherited metabolic disorder caused by deficiency of glucose 6-phosphatase (G6Pase-α). G6Pase-α is critical for maintaining interprandial euglycemia. GSD1a patients exhibit life-threatening hypoglycemia and long-term liver complications including hepatocellular adenomas (HCAs) and carcinomas (HCCs). There is no treatment for GSD1a and the current standard-of-care for managing hypoglycemia (Glycosade®/modified cornstarch) fails to prevent HCA/HCC risk. Therapeutic modalities such as enzyme replacement therapy and gene therapy are not ideal options for patients due to challenges in drug-delivery, efficacy, and safety. To develop a new treatment for GSD1a capable of addressing both the life-threatening hypoglycemia and HCA/HCC risk, we encapsulated engineered mRNAs encoding human G6Pase-α in lipid nanoparticles. We demonstrate the efficacy and safety of our approach in a preclinical murine model that phenotypically resembles the human condition, thus presenting a potential therapy that could have a significant therapeutic impact on the treatment of GSD1a.

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