Synonyms

• Glycogenosis Type VIII
• Hepatic Phosphorylase Kinase Deficiency
• Phosphorylase Kinase Deficiency of Liver
• PYKL

Disorder Subdivisions

• None

General Discussion

Glycogen storage disease VIII is one of a group of hereditary disorders caused by a lack of one or more enzymes involved in glycogen synthesis or breakdown and characterized by deposition of abnormal amounts or types of glycogen in tissues. Excessive amounts of glycogen (which acts to store energy for later use) are deposited in the liver, causing it to become enlarged (hepatomegaly).
.

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@climb.org.uk
Internet: http://www.CLIMB.org.uk

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Children's Liver Alliance
IN
Email: mail@liverkids.org.au
Internet: http://www.liverkids.org.au

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

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/24/2008
Copyright  1987, 1989, 1991, 2000National Organization for Rare Disorders, Inc.