Hepatic adenomatosis in glycogen storage disease: Radio-pathological correlation

2021 ◽  
Author(s):  
João M Louro ◽  
Ana M Alves ◽  
José R Brandão ◽  
Manuela França
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Pathological Correlation ◽  
Hepatic Adenomatosis

Hepatic Adenomatosis in Glycogen Storage Disease Type Ia: Report of a Case With Unusual Histology

2003 ◽  
Vol 127 (10) ◽  
pp. e402-e405
Author(s):  
Keith E. Volmar ◽  
James L. Burchette ◽  
Andrew J. Creager
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Granulomatous Inflammation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Fourth Case ◽  
Type Ia ◽  
Hepatocellular Adenomas ◽  
Hepatic Adenomatosis

Abstract Hepatic adenomatosis is a well-known complication of glycogen storage disease type Ia (von Gierke disease). Although most of these tumors have an appearance similar to sporadic hepatocellular adenomas, unusual histologic features have been reported, including Mallory hyaline, varying degrees of fibrosis, and aggregates of neutrophils. We report the fourth case of Mallory hyaline in the adenomas of glycogen storage disease type Ia in a 28-year-old woman undergoing segmental hepatectomy for enlarging liver nodules. Other prominent findings included steatohepatitis and nonspecific granulomatous inflammation—2 findings that are commonly seen in sporadic adenomas but not, to our knowledge, previously reported in glycogen storage disease type Ia.

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.

scholarly journals Author Correction: Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zahra Beyzaei ◽  
Fatih Ezgu ◽  
Bita Geramizadeh ◽  
Mohammad Hadi Imanieh ◽  
Mahmood Haghighat ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Gene Sequencing ◽  
Glycogen Storage ◽  
Iranian Population ◽  
Targeted Gene Sequencing
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