Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hers Disease


Synonyms of Hers Disease
  • Glycogenosis Type VI
  • Glycogen Storage Disease VI
  • Hepatophosphorylase Deficiency Glycogenosis
  • Liver Phosphorylase Deficiency
  • Phosphorylase Deficiency Glycogen Storage Disease

Disorder Subdivisions



    General Discussion
    Hers disease is a genetic metabolic disorder caused by a deficiency of the enzyme, liver phosphorylase. This enzyme is necessary to break down (metabolize) glycogen, a carbohydrate that is stored in the liver and muscle and used for energy. Deficiency of this enzyme results in the abnormal accumulation of glycogen in the body. Hers disease is one of a group of disorders known as the glycogen storage disorders. It is characterized by enlargement of the liver (hepatomegaly), moderately low blood sugar (hypoglycemia), elevated levels of acetone and other ketone bodies in the blood (ketosis), and moderate growth retardation. Symptoms are not always evident during childhood, and children are usually able to lead normal lives.

    Organizations related to Hers Disease
    • Association for Glycogen Storage Disease
      P.O. Box 896
      Durant IA 52747
      Phone #: 563-785-6038
      800 #: --
      e-mail: maryc@agsdus.org
      Home page: http://www.agsdus.org
    • Association for Glycogen Storage Disease (UK)
      9 Lindop Road
      Cheshire None WA159DZ
      Phone #: 161-980-7303
      800 #: --
      e-mail: president@agsd.org.uk
      Home page: http://www.agsd.org.uk
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Institute of Diabetes, Digestive & Kidney Diseases
      Endocrine Diseases Metabolic Diseases Branch
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: --
      e-mail: NDDIC@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html