Abstract #794505: Nutritional Management of Glycogen Storage Disease of The Liver Type Ia in the Septic Setting, Demonstrated by a Case and Review of Literature

2020 ◽  
Vol 26 ◽  
pp. 170
Author(s):  
Scarlette Garcia
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Nutritional Management ◽  
Review Of Literature ◽  
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.

scholarly journals Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia

2019 ◽  
Vol 13 ◽  
pp. 265-273 ◽  
Author(s):  
Hye-Ri Kang ◽  
Lauren Waskowicz ◽  
Andrea M. Seifts ◽  
Dustin J. Landau ◽  
Sarah P. Young ◽  
...  
Keyword(s):  
Genome Editing ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Aav Vector ◽  
Type Ia

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

2004 ◽  
Vol 83 (3) ◽  
pp. 276-279 ◽  
Author(s):  
Celia J. Angaroni ◽  
Raquel Dodelson de Kremer ◽  
Carlos E. Argaraña ◽  
Ana E. Paschini-Capra ◽  
Alicia N. Giner-Ayala ◽  
...  
Keyword(s):  
Protein Stability ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia
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