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Glycogen Storage Disease Type 1 ( GSD I ) or Von Gierke ’s Disease is a liver disease . The disease is make by increase glucose assemblage in theliver . The disease result in various complication as described in the article . The significant impression of glucose accumulation is puff up of the liver as well as the kidneys.1In this article , we will discuss in detail the unlike causes , symptoms , and treatment of Glycogen Storage Disease Type 1 ( GSD I ) or Von Gierke ’s Disease .
How Is Glycogen Storage Disease Type 1 (GSD I) or Von Gierke’s Disease Defined?
Causes of Glycogen Storage Disease Type 1 (GSD I) or Von Gierke’s Disease
a. Enzyme Translocase Abnormality-
Symptoms of Glycogen Storage Disease Type 1 (GSD I) or Von Gierke’s Disease
Symptoms Caused By Hypoglycemia-
Abnormal Abdominal Clinical Signs:
Symptoms Caused By Lactic Acidosis-
Symptoms Caused By Kidney Failure-
Symptoms Caused By Abnormal Blood Clotting-
Diagnosis of Glycogen Storage Disease Type 1 (GSD I) or Von Gierke’s Disease
Symptoms are obvious before child is one class older . Investigations are done as soon as symptom are observed .
Blood Examination-
Ultrasound Examination-
Imaging Studies-
CT Scan and MRI ( Magnetic Resonance Imaging )
Liver Biopsy-
Treatment For Glycogen Storage Disease Type 1 (GSD I) or Von Gierke’s Disease
The Treatment of Glycogen Storage Disease Type 1 ( GSD I ) or Von Gierke ’s Disease is aimed at early diagnosing and medical management . Medical management has better life expectancy.4
Medical Management4–
Liver and Kidney Transplant Surgery5–
Gene Therapy6–
character reference :
1 . Glucose-6 - phosphatase lack .
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Orphanet J Rare Dis . 2011 May 20;6:27 .
2 . animal starch computer memory disease character Ia : linkage of glucose , glycogen , lactic acid , triglyceride , and uric acid metamorphosis .
Sever S1 , Weinstein DA , Wolfsdorf JI , Gedik R , Schaefer EJ .
J Clin Lipidol . 2012 Nov - Dec;6(6):596 - 600 .
3 . Electron microscopy : a method for the diagnosis of inherited metabolic storage diseases . Electron microscopy in diagnosis .
Spycher MA .
Pathol Res Pract . 1980 May;167(1):118 - 35 .
4 . Consensus guidelines for management of animal starch computer storage disease type 1b – European Study on Glycogen Storage Disease Type 1 .
Visser G1 , Rake JP , Labrune P , Leonard JV , Moses S , Ullrich K , Wendel U , Smit GP ; European Study on Glycogen Storage Disease Type I.
Eur J Pediatr . 2002 Oct;161 Suppl 1 : S120 - 3 .
5 . Preemptive liver - kidney transplantation in von Gierke disease : a typeface story .
Marega A1 , Fregonese C , Tulissi P , Vallone C , Gropuzzo M , Toniutto PL , Baccarani U , Bresadola F , Toso F , Montanaro D.
Transplant Proc . 2011 May;43(4):1196 - 7 . doi : 10.1016 / j.transproceed.2011.03.003 .
6 . Prevention of hepatocellular adenoma and chastening of metabolic abnormalities in murine glycogen storage disease type Ia by cistron therapy .
Lee YM1 , Jun HS , Pan CJ , Lin SR , Wilson LH , Mansfield BC , Chou JY .
Hepatology . 2012 Nov;56(5):1719 - 29 .
