Glycogen Storage Disease Type I / Disease

Diseases & Conditions

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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