Glycogen Storage Disease Type IX

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Glycogen Storage Disease Type IX 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.


  • GSD-IX
  • phosphorylase kinase deficiency
  • PhK deficiency

Disorder Subdivisions

  • None

General Discussion

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).


CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174

Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
Tel: (563)514-4022
Fax: (563)514-4022

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583

Association for Glycogen Storage Disease (UK) Ltd
Old Hambledon Racecourse
Sheardley Lane, Droxford
Hampshire, SO32 3QY
United Kingdom
Tel: 03001232790

Children's Fund for Glycogen Storage Disease Research, Inc.
917 Bethany Mountain Road
Cheshire, CT 06410
Tel: (203)272-2873
Fax: (203)272-6695

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

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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

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Last Updated:  10/15/2014
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