Glycogen storage disease type 9d

(GSD9d)

Synonym(s)
- Muscle phosphorylase kinase alpha subunit 1 deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PHKA1 / Phosphorylase Kinase Regulatory Subunit Alpha 1
  Xq13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphorylase kinase regulatory subunit alpha 1, liver
Pathway
- Glycogen metabolism
Disease group(s)
- 3.4.3 Muscle glycogenoses