scholarly journals Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI

2019 ◽  
Vol 3 (11) ◽  
pp. 1544-1555 ◽  
Author(s):  
Lane H. Wilson ◽  
Jun‐Ho Cho ◽  
Ana Estrella ◽  
Joan A. Smyth ◽  
Rong Wu ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Murine Model ◽  
Glycogen Phosphorylase ◽  
Storage Disease ◽  
Liver Glycogen ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

scholarly journals The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1205
Author(s):  
Sarah Catharina Grünert ◽  
Luciana Hannibal ◽  
Ute Spiekerkoetter
Keyword(s):  
Liver Cirrhosis ◽  
Glycogen Storage Disease ◽  
Glycogen Phosphorylase ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Hepatic Glycogen ◽  
Laboratory Findings ◽  
Poor Growth

Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (PYGL), resulting in a deficiency of hepatic glycogen phosphorylase. We performed a systematic literature review in order to collect information on the clinical phenotypes and genotypes of all published GSD VI patients and to compare the data to those for GSD IX, a biochemically and clinically very similar disorder caused by a deficiency of phosphorylase kinase. A total of 63 genetically confirmed cases of GSD VI with clinical information were identified (median age: 5.3 years). The age at presentation ranged from 5 weeks to 38 years, with a median of 1.8 years. The main presenting symptoms were hepatomegaly and poor growth, while the most common laboratory findings at initial presentation comprised elevated activity of liver transaminases, hypertriglyceridemia, fasting hypoglycemia and postprandial hyperlactatemia. Liver biopsies (n = 37) showed an increased glycogen content in 89.2%, liver fibrosis in 32.4% and early liver cirrhosis in 10.8% of cases, respectively. No patient received a liver transplant, and one successful pregnancy was reported. Our review demonstrates that GSD VI is a disorder with broad clinical heterogeneity and a small number of patients with a severe phenotype and liver cirrhosis. Neither clinical nor laboratory findings allow for a differentiation between GSD VI and GSD IX. Early biochemical markers of disease severity or clear genotype phenotype correlations are missing. Given the overall benign and unspecific phenotype and the need for enzymatic or genetic analyses for confirmation of the diagnosis, GSD VI is likely underdiagnosed. With new treatment approaches in sight, early, pre-symptomatic diagnosis, especially with respect to hepatic cirrhosis, will become even more important.

scholarly journals Circulating exosomal microRNAs as potential biomarkers of hepatic injury and inflammation in a murine model of glycogen storage disease type 1a

2020 ◽  
Vol 13 (9) ◽  
pp. dmm043364
Author(s):  
Roberta Resaz ◽  
Davide Cangelosi ◽  
Martina Morini ◽  
Daniela Segalerba ◽  
Luca Mastracci ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Murine Model ◽  
Storage Disease ◽  
Hepatocellular Adenoma ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Telomere Maintenance ◽  
Differentially Expressed ◽  
Potential Biomarkers

ABSTRACTMost patients affected by glycogen storage disease type 1a (GSD1a), an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α), develop renal and liver complications, including the development of hepatocellular adenoma/carcinoma. The purpose of this study was to identify potential biomarkers of the pathophysiology of the GSD1a-affected liver. To this end, we used the plasma exosomes of a murine model of GSD1a, the LS-G6pc−/− mouse, to uncover the modulation in microRNA expression associated with the disease. The microRNAs differentially expressed between LS-G6pc−/− and wild-type mice, LS-G6pc−/− mice with hepatocellular adenoma and LS-G6pc−/− mice without adenoma, and LS-G6pc−/− mice with amyloidosis and LS-G6pc−/− mice without amyloidosis were identified. Pathway analysis demonstrated that the target genes of the differentially expressed microRNA were significantly enriched for the insulin signaling pathway, glucose and lipid metabolism, Wnt/β-catenin, telomere maintenance and hepatocellular carcinoma, and chemokine and immune regulation signaling pathways. Although some microRNAs were common to the different pathologic conditions, others were unique to the cancerous or inflammatory status of the animals. Therefore, the altered expression of several microRNAs is correlated with various pathologic liver states and might help to distinguish them during the progression of the disease and the development of late GSD1a-associated complications.

Glycogen Storage Disease Type Ilia Presenting as Non-Ketotic Hypoglycemia: Use of a Newly Approved Commercially Available Mutation Analysis to Non-Invasively Confirm the Diagnosis

2008 ◽  
Vol 21 (6) ◽  
pp. 587-590
Author(s):  
Jonathan Seigel ◽  
David A. Weinstein ◽  
Richard Hillman ◽  
Brooke Colbert ◽  
Belinda Matthews ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Mutation Analysis ◽  
Storage Disease ◽  
Clinical Laboratory ◽  
Autosomal Recessive Disorder ◽  
Liver Glycogen ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Ketotic Hypoglycemia

Abstract Glycogen storage disease type III (GSD-111) is an autosomal recessive disorder caused by the lack of amylo-1,6-glucosidase (AGL), one of the catalytic domains of the glycogen debranching enzyme. Deficiency of this enzyme classically results in hepatomegaly and ketotic hypoglycemia. The diagnosis of the disorder was previously confirmed with a liver biopsy demonstrating abnormal liver glycogen content and absent enzyme activity. We describe an 11 month-old African-American Jehovah's Witness male with non-ketotic hypoglycemia (NKH), hepatomegaly, cardiomyopathy, and a flat glucagon response confirmed to have GSD-IIIa by mutation analysis of the A GL gene. The present case represents an unusual presentation (NKH) of GSD-IIIa and emphasizes the utility of the newly approved commercially available Clinical Laboratory Improvement Advisory Committee (CLIA) mutation analysis test.

scholarly journals Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

1998 ◽  
Vol 102 (3) ◽  
pp. 507-515 ◽  
Author(s):  
M Orho ◽  
N U Bosshard ◽  
N R Buist ◽  
R Gitzelmann ◽  
A Aynsley-Green ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Synthase ◽  
Liver Glycogen ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency)

2010 ◽  
Vol 411 (13-14) ◽  
pp. 998-999 ◽  
Author(s):  
Ichitomo Miwa ◽  
Tadao Taguchi ◽  
Hisaki Asano ◽  
Tomiyasu Murata ◽  
Tohru Yorifuji ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Synthase ◽  
Liver Glycogen ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Low Level ◽  
Fasting Plasma
Sign in / Sign up

Export Citation Format

Share Document