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Glycogen Storage Disease Type IV
Definition: An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

Synonym(s): Amylopectinosis / Andersen Disease / Brancher Deficiency / Glycogenosis 4 / Andersen's Disease / Deficiency, Brancher / Glycogen Branching Enzyme Deficiency / Glycogen Storage Disease Type 4 / Type IV Glycogenosis / Amylopectinoses / Andersens Disease / Brancher Deficiencies / Deficiencies, Brancher / Disease, Andersen / Disease, Andersen's / Glycogenoses, Type IV / Glycogenosis 4s / Glycogenosis, Type IV / Type IV Glycogenoses
MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Glycogen Storage Disease Type IV"
             

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view the HON description of the site HONcode - Orphanet: Glycogen branching enzyme deficiencywww.orpha.net  
view the HON description of the site HONcode - Type IV: Andersenwww.agsdus.org  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
 
 

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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