Hyperlipidemia and fatty acid composition in patients treated for type IA glycogen storage disease

1991 ◽  
Vol 119 (3) ◽  
pp. 398-403 ◽  
Author(s):  
Harry L. Greene ◽  
Larry L. Swift ◽  
Howard R. Knapp
Keyword(s):  
Fatty Acid Composition ◽  
Fatty Acid ◽  
Acid Composition ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Type Ia

Plasma and lipoprotein fatty acid composition in glycogen storage disease type I

Lipids ◽  
1987 ◽  
Vol 22 (6) ◽  
pp. 381-385 ◽  
Author(s):  
Emile Levy ◽  
Jacques Letarte ◽  
Guy Lepage ◽  
Louise Thibault ◽  
Claude C. Roy
Keyword(s):  
Fatty Acid Composition ◽  
Fatty Acid ◽  
Acid Composition ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type I

scholarly journals Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia

2018 ◽  
Vol 28 (1) ◽  
pp. 143-154 ◽  
Author(s):  
Lauren R Waskowicz ◽  
Jin Zhou ◽  
Dustin J Landau ◽  
Elizabeth D Brooks ◽  
Andrea Lim ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Acid Oxidation ◽  
Hepatic Glycogen ◽  
Type Ia

Abstract Glucose-6-phosphatase α (G6Pase) deficiency, also known as von Gierke’s Disease or Glycogen storage disease type Ia (GSD Ia), is characterized by decreased ability of the liver to convert glucose-6-phosphate to glucose leading to glycogen accumulation and hepatosteatosis. Long-term complications of GSD Ia include hepatic adenomas and carcinomas, in association with the suppression of autophagy in the liver. The G6pc−/− mouse and canine models for GSD Ia were treated with the pan-peroxisomal proliferator-activated receptor agonist, bezafibrate, to determine the drug’s effect on liver metabolism and function. Hepatic glycogen and triglyceride concentrations were measured and western blotting was performed to investigate pathways affected by the treatment. Bezafibrate decreased liver triglyceride and glycogen concentrations and partially reversed the autophagy defect previously demonstrated in GSD Ia models. Changes in medium-chain acyl-CoA dehydrogenase expression and acylcarnintine flux suggested that fatty acid oxidation was increased and fatty acid synthase expression associated with lipogenesis was decreased in G6pc−/− mice treated with bezafibrate. In summary, bezafibrate induced autophagy in the liver while increasing fatty acid oxidation and decreasing lipogenesis in G6pc−/− mice. It represents a potential therapy for glycogen overload and hepatosteatosis associated with GSD Ia, with beneficial effects that have implications for non-alcoholic fatty liver disease.

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

2007 ◽  
Vol 30 (6) ◽  
pp. 989-989 ◽  
Author(s):  
E. Barkaoui ◽  
W. Cherif ◽  
N. Tebib ◽  
C. Charfeddine ◽  
F. Ben Rhouma ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Type Ia

Rapid detection of glycogen storage disease type Ia by DNA microarray

2010 ◽  
Vol 48 (9) ◽  
Author(s):  
Shanshan Xu ◽  
Shengying Qin ◽  
Xuefan Gu ◽  
Wenjuan Qiu ◽  
Jun Ye ◽  
...  
Keyword(s):  
Dna Microarray ◽  
Glycogen Storage Disease ◽  
Rapid Detection ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia

Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia

1999 ◽  
Vol 22 (6) ◽  
pp. 723-732 ◽  
Author(s):  
L. Faivre ◽  
D. Houssin ◽  
J. Valayer ◽  
J. Brouard ◽  
M. Hadchouel ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Type Ia

scholarly journals DDAVP infusion in five patients with type Ia glycogen storage disease and associated correction of prolonged bleeding times

Blood ◽  
1986 ◽  
Vol 68 (1) ◽  
pp. 180-184 ◽  
Author(s):  
GE Marti ◽  
ME Rick ◽  
J Sidbury ◽  
HR Gralnick
Keyword(s):  
Glycogen Storage Disease ◽  
Bleeding Time ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Type I ◽  
Bleeding Diathesis ◽  
Agarose Gel Electrophoresis ◽  
Type Ia ◽  
Von Willebrand

Abstract Five patients with glycogen storage disease type I (GSD-I) were evaluated for a bleeding diathesis and subsequently were given an infusion of 1-deamino-8-D-arginine vasopressin (DDAVP). Although platelet counts were normal or slightly elevated, the baseline template bleeding times were prolonged in four of the patients. Prothrombin times and activated partial thromboplastin times were normal, while ADP- and epinephrine-induced platelet aggregations were absent in the three patients tested. Ristocetin- and collagen-induced platelet aggregations were abnormal. Laurell and immunoradiometric determinations of the factor VIII-related antigen (vWf antigen) were decreased. Glyoxyl agarose gel electrophoresis of the patients' plasma revealed abnormal multimer patterns in four of the five patients. After the DDAVP infusion the platelet aggregation abnormalities persisted; however, the bleeding time and the von Willebrand antigen and activity corrected. We conclude that GSD-Ia patients may have a metabolically acquired form of von Willebrand's syndrome as well as an acquired intrinsic platelet defect, and that DDAVP may be useful in the management of bleeding in these patients.

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