Glycogen Storage Disease Type I

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Glycogen Storage Disease Type I is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • GSDI
  • Glycogenosis Type I
  • Glucose-6-Phosphatase Deficiency Glycogen Storage Disease
  • 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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
USA
Tel: (563)785-6038
Fax: (563)785-6038
Email: maryc@agsdus.org
Internet: http://www.agsdus.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)496-7422
Email: NDDIC@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Association for Glycogen Storage Disease (UK)
9 Lindop Road
Hale
Altricham
Cheshire, WA159DZ
United Kingdom
Tel: 1619807303
Fax: 1612263813
Email: president@agsd.org.uk
Internet: http://www.agsd.org.uk

Children's Fund for Glycogen Storage Disease Research, Inc.
917 Bethany Mountain Road
Cheshire, CT 06410
USA
Tel: (203)272-2873
Fax: (203)272-6695
Email: info@curegsd.org
Internet: http://www.cureGSD.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

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

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