Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Glycogen storage disease due to liver phosphorylase kinase deficiency

Disease definition

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.


Classification level: Disorder
  • Synonym(s):
    • GSD due to liver phosphorylase kinase deficiency
    • GSD type 9A
    • GSD type 9C
    • GSD type IXa
    • GSD type IXc
    • Glycogen storage disease type 9A
    • Glycogen storage disease type 9C
    • Glycogen storage disease type IXa
    • Glycogen storage disease type IXc
    • Glycogenosis due to liver phosphorylase kinase deficiency
    • Glycogenosis type 9A
    • Glycogenosis type 9C
    • Glycogenosis type IXa
    • Glycogenosis type IXc
    • XLG
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E74.0
  • OMIM: 306000  613027
  • UMLS: C5575419
  • MeSH: -
  • GARD: -
  • MedDRA: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.