1.3.d

Disorders of glycogen metabolism

  • Muscle glycogenin 1 deficiency (Glycogen storage disease type 15; polyglucosan body myopathy type 2)
  • Liver glycogenin 2 deficiency
  • Muscle glycogen synthase deficiency (Glycogen storage disease type 0b)
  • Hepatic glycogen synthase deficiency (Glycogen storage disease type 0a)
  • Glucose-6-phosphatase deficiency (Glycogen storage disease type 1a)
  • Glucose-6-phosphate transporter deficiency (Glycogen storage disease type 1b)
  • Glycogen debranching enzyme deficiency (Glycogen storage disease type 3; Cori Forbes disease; limit dextrinosis)
  • Glycogen branching enzyme deficiency (Glycogen storage disease type 4; Andersen disease; adult polyglucosan body disease)
  • Muscle glycogen phosphorylase deficiency (Glycogen storage disease type 5; McArdle disease)
  • Liver glycogen phosphorylase deficiency (Glycogen storage disease type 6; Hers disease)
  • Hepatic phosphorylase kinase subunit alpha 2 deficiency (Glycogen storage disease type 9a)
  • Phosphorylase kinase subunit beta deficiency (Glycogen storage disease type 9b)
  • Hepatic phosphorylase kinase subunit gamma 2 deficiency (Glycogen storage disease type 9c)
  • Muscle phosphorylase kinase subunit alpha 1 deficiency (Glycogen storage disease type 9d)
  • Cardiac phosphorylase kinase deficiency
  • HOIL1 deficiency (Polyglucosan body myopathy type 1)
  • HOIL1 interacting protein deficiency
  • Laforin deficiency (Progressive myoclonic epilepsy type 2A)
  • Malin deficiency (Progressive myoclonic epilepsy type 2B)

Subnetworks

cfao 1

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorders

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