Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Demo, Erin; Frush, Donald P.; Gottfried, Marcia R.; Koepke, John; Boney, Anne; Bali, Deeksha; Chen, Y.T.; Kishnani, Priya S.

doi:10.1016/j.jhep.2006.09.022

Cited by 117 publications

(93 citation statements)

References 19 publications

(23 reference statements)

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“…17 There are also reports of hepatocellular carcinoma (HCC). 18 In rare instances, hepatic symptoms may be mild, and the diagnosis is not made until adulthood when the individuals manifest symptoms and signs of neuromuscular disease. 21 Muscle involvement in GSD IIIa is variable; some individuals have asymptomatic cardiomyopathy, some have symptomatic cardiomyopathy leading to death, and others have only skeletal muscle and no apparent heart involvement.…”

Section: Clinical Historymentioning

confidence: 99%

Glycogen Storage Disease Type III diagnosis and management guidelines

Kishnani

Austin

Arn

et al. 2010

Genetics in Medicine

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234

282

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Section: Clinical Historymentioning

confidence: 99%

Glycogen Storage Disease Type III diagnosis and management guidelines

Kishnani

Austin

Arn

et al. 2010

Genetics in Medicine

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234

282

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“…There is significant variability of clinical signs referable to liver, skeletal muscle, and myocardial dysfunction. Liver symptoms typically appear in childhood and lessen with age; liver cirrhosis, hepatic adenomas, and hepatocellular carcinoma occur in some cases [1,[3][4][5][6]. Progressive myopathy and/or cardiomyopathy is a major cause of morbidity in adults.…”

Section: Introductionmentioning

confidence: 99%

Correction of glycogen storage disease type III with rapamycin in a canine model

Brooks

Thurberg

et al. 2014

J Mol Med

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Recently, we reported that progression of liver fibrosis and skeletal myopathy caused by extensive accumulation of cytoplasmic glycogen at advanced age is the major feature of a canine model of glycogen storage disease (GSD) IIIa. Here, we aim to investigate whether rapamycin, a specific inhibitor of mTOR, is an effective therapy for GSD III. Our data show that rapamycin significantly reduced glycogen content in primary muscle cells from human patients with GSD IIIa by suppressing the expression of glycogen synthase and glucose transporter 1. To test the treatment efficacy in vivo, rapamycin was daily administered to GSD IIIa dogs starting from age 2 (early-treatment group) or 8 months (late-treatment group), and liver and skeletal muscle biopsies were performed at age 12 and 16 months. In both treatment groups, muscle glycogen accumulation was not affected at age 12 months but significantly inhibited at 16 months. Liver glycogen content was reduced in the early-treatment group but not in the latetreatment group at age 12 months. Both treatments effectively reduced liver fibrosis at age 16 months, consistent with markedly inhibited transition of hepatic stellate cells into myofibroblasts, the central event in the process of liver fibrosis. Our results suggest a potential useful therapy for GSD III.

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“…Type Ⅰ GSD is usually associated with inflammatory subtype of HCA [6] . The possibility of malignant conversion is minimal in type Ⅲ as compared to nearly 10% in type Ⅰ GSD [5] . Disease regression has been noted in patients adhering to specific diet (continuous nocturnal feeding) with correction of insulin, glucose, and glucagon levels [7] .…”

Section: Etiology and Presentationmentioning

confidence: 94%

“…Both are inherited autosomal recessive disorders. HCAs are seen in nearly 22%-75% of patients with type Ⅰ disease compared to 4.4%-25% of the patients with type Ⅲ disease [5] . They usually occur in second decade, with a higher proportion among males (2:1).…”

Section: Etiology and Presentationmentioning

confidence: 98%

Hepatocellular adenoma: An update

Vijay

Elaffandi

Khalaf

2015

WJH

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Hepatocellular adenomas (HCA) are rare benign liver tumors. Recent technological advancements have helped in the early identification of such lesions. However, precise diagnosis of hepatocellular incidentalomas remains challenging. Studies at the molecular level have provided new insights into the genetics and pathophysiology of these lesions. These in turn have raised questions over their existing management modalities.However, the rarity of the tumor still restricts the quality of evidence available for current recommendations and guidelines. This article provides a comprehensive review on the etiology, molecular biology, pathophysiology, clinical manifestations, and complications associated with HCA. It also elaborates on the genetic advancements, existing diagnostic tools and current guidelines for management for such lesions. Core tip: Hepatocellular adenomas despite being benign liver neoplasms often pose diagnostic and therapeutic challenges. Studies at the molecular level have provided new insights into the genetics and pathophysiology of these lesions. These in turn have raised questions over their existing management modalities. This article provides a comprehensive review and update on the topic.

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Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Cited by 117 publications

References 19 publications

Glycogen Storage Disease Type III diagnosis and management guidelines

Glycogen Storage Disease Type III diagnosis and management guidelines

Correction of glycogen storage disease type III with rapamycin in a canine model

Hepatocellular adenoma: An update

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