Additional Resources

Section

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

NORD Summit 2026 Banner Ad

glycogen storage disease IXa1

Download report (PDF)

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Disease Overview

Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.

Synonyms

  • GSD VIII
  • GSD VIII, formerly
  • GSD type 9A
  • GSD type IXa
  • GSD9A
  • GSD9A1
  • PHKA2 glycogen storage disease
  • PHKA2-related glycogen storage disease type IX
  • PYKL
  • glycogen storage disease 8
  • glycogen storage disease IXa
  • glycogen storage disease IXa1
  • glycogen storage disease VIII
  • glycogen storage disease VIII, formerly
  • glycogen storage disease caused by mutation in PHKA2
  • glycogen storage disease type 9A
  • glycogen storage disease type IXa
  • glycogen storage disease type VIII
  • glycogen storage disease, type IXa1, X-linked recessive
  • glycogen storage disease, type IXa2, X-linked recessive
  • glycogenosis type 8
  • glycogenosis type 9A
  • glycogenosis type IXa
  • glycogenosis type VIII
  • hepatic glycogen phosphorylase kinase deficiency
  • hepatic phosphorylase kinase deficiency
  • liver glycogenosis, X-linked, type 1
  • phosphorylase kinase deficiency of liver
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report
GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

View report
Sign Up for NORD News

Access State Report Card Data

Please complete this form to access the requested resource.

Please consider sharing some basic information with us.

Name(Required)
Consent(Required)
This field is hidden when viewing the form