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

Glycogen Storage Disease Type I


Synonyms of Glycogen Storage Disease Type I
  • Glucose-6-Phosphatase Deficiency Glycogen Storage Disease
  • Glycogenosis Type I
  • GSDI
  • Von Gierke Disease

Disorder Subdivisions

  • Glycogen Storage Disease Type IA
  • Glycogen Storage Disease Type IB


General Discussion
Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. GSDI is associated with abnormalities in the G6PC gene or SLC37A4 gene that result in enzyme deficiencies that cause excess amounts of glycogen to be stored in the body tissues and low levels of glucose in the blood. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder.

Organizations related to Glycogen Storage Disease Type I
  • 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
  • Children's Fund for Glycogen Storage Disease Research, Inc.
    917 Bethany Mountain Road
    Cheshire CT 06410
    Phone #: 203-272-2873
    800 #: N/A
    e-mail: info@cureGSD.org
    Home page: http://www.cureGSD.org
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • 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