Glycogen Storage Disease Type IX
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Glycogen Storage Disease Type IX is not the name you expected.
Glycogen storage disease type IX (GSD-IX) is a group of at least four disorders characterized by a deficiency of the enzyme phosphorylase kinase. This enzyme is necessary to break down (metabolize) a type of complex sugar known as glycogen. Normally, glycogen is metabolized into a simple sugar known as glucose. Glucose is one of the main sources of energy for the body. When there is excess glycogen, it is stored in the body, primarily in the liver and muscles and, when the body needs more energy, is eventually converted into glucose. Because individuals with GSD-IX cannot properly break down glycogen, excess amounts accumulate in the liver, muscles, or both. GSD-IX is sometimes categorized into a liver form (caused by phosphorylase kinase deficiency in the liver, or liver and muscle) and muscle form, which is rare and is caused by phosphorylase kinase deficiency in the muscle only.
Common symptoms of the liver form include abnormal enlargement of the liver (hepatomegaly), unusually low levels of blood glucose (hypoglycemia) during fasting, and growth delays. The specific symptoms that develop and the overall severity of GSD-IX can vary greatly from one individual to another, even among individuals with the same subtype. The liver form of GSD-IX is inherited in either an X-linked or autosomal recessive manner and can be caused by a mutation in one of three different genes. Mutations in only one gene have been found in individuals with the muscle form. This form is rare and is inherited in an X-linked manner.
GSD-IX is part of a larger group of disorders in which the body cannot metabolize glycogen into glucose (glycogen storage diseases). The underlying cause is different for each glycogen storage disease. GSD-IX was first described in the medical literature in 1966 by Dr. Hug, et al. They reported on a young girl with phosphorylase kinase deficiency of the liver that was consistent with autosomal recessive inheritance. Later on, similar individuals were described in the medical literature whose cases were more consistent with X-linked inheritance. This second group of individuals was originally classified as having glycogen storage disease type VIII. However, the X-linked form is now classified as a subtype of GSD-IX since the disorder involves the same enzyme complex as the autosomal recessive forms. The classification of GSD-VIII is no longer used (obsolete).
Association for Glycogen Storage Disease
- P.O. Box 896
- Durant, IA 52747
- Tel: (563)514-4022
- Fax: (563)514-4022
- Email: firstname.lastname@example.org
- Website: http://www.agsdus.org
Association for Glycogen Storage Disease (UK) Ltd
- Old Hambledon Racecourse
- Sheardley Lane, Droxford
- Hampshire, SO32 3QY
- United Kingdom
- Tel: 3001232790
- Email: email@example.com
- Website: http://www.agsd.org.uk
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: firstname.lastname@example.org
- Website: http://www.CLIMB.org.uk
Children's Fund for Glycogen Storage Disease Research, Inc.
- 917 Bethany Mountain Road
- Cheshire, CT 6410
- Tel: (203)272-2873
- Fax: (203)272-6695
- Email: email@example.com
- Website: http://www.cureGSD.org
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
- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 10/15/2014
Copyright 2014 National Organization for Rare Disorders, Inc.
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