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Glycogen Storage Disease Type I
Definition: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.

Synonym(s): Glucose-6-Phosphatase Deficiency / Glucosephosphatase Deficiency / Glycogenosis 1 / Hepatorenal Glycogen Storage Disease / von Gierke Disease / Deficiency, Glucosephosphatase / Gierke Disease / Gierke's Disease / Glycogen storage disease 1 (GSD I) / von Gierke's Disease / Deficiencies, Glucose-6-Phosphatase / Deficiencies, Glucosephosphatase / Deficiency, Glucose-6-Phosphatase / Disease, Gierke / Disease, Gierke's / Disease, von Gierke / Disease, von Gierke's / Gierkes Disease / Glucose 6 Phosphatase Deficiency / Glucose-6-Phosphatase Deficiencies / Glucosephosphatase Deficiencies / von Gierkes Disease
MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Glycogen Storage Disease Type I"
             

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info: enter the site: (click below) domain of the site:  
view the HON description of the site HONcode - Von Gierke disease: MedlinePlus Medical Encyclopediawww.nlm.nih.gov  
view the robot description of the site List of Diseases: G - RightDiagnosis.comwww.wrongdiagnosis.com  
view the robot description of the site Abstract | Glucose-6-phosphatase deficiencywww.ojrd.com  
view the HON description of the site HONcode - faqswww.agsdus.org 3
view the HON description of the site HONcode - Orphanet: Glycogen storage disease due to glucose 6 phosphatase deficiency type awww.orpha.net 3
view the robot description of the site Differential Diagnosis For Acetone level (Lab) - Increaseden.diagnosispro.com  
view the robot description of the site Ehealthconnection | Health Informationwww.ehealthconnection.com  
view the robot description of the site AGSD | Association for Glycogen Storage Disease (UK) www.agsd.org.uk  
view the robot description of the site Rare Disease Database — National Organization for Rare Disorderswww.rarediseases.org  
view the HON description of the site HONcode - Medical Encyclopedia - Health Encyclopedia - Diseases and Conditions Index: Vwww.health.am  
 
 

Broader term(s): - Glycogen Storage Disease - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Carbohydrate Metabolism, Inborn Errors
                          Glycogen Storage Disease 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Carbohydrate Metabolism, Inborn Errors
                          Glycogen Storage Disease 

MeSH 2010 © U.S. National Library of Medicine®.

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