Glycogen storage disease type IX

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Glycogen storage disease IX
Glycogen structure
SymptomsEnlarged liver[1]
CausesMutations in PHKA1, PHKA2, PHKB, or PHKG2 genes[2]
Diagnostic methodCBC, Urinalysis[1][3]
TreatmentPhysical therapy, follow metabolic nutritionist[1]

Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inherited in an X-linked or autosomal recessive manner.[1]

Signs and symptoms

The signs and symptoms in glycogen storage disease type IX include:[1]

Most of these signs and symptoms diminish as adulthood sets in.[1]


Glycogen storage disease type IX can be inherited via:[2][4]


The diagnosis of glycogen storage disease IX consists of the following:[1][3]


There are two types of this inherited condition, glycogen storage disease IXa1 and glycogen storage disease IXa2 that affect the liver of an individual.[6] Mutations in PHKA2 have been seen in individuals with glycogen storage disease IXa2.[medical citation needed]



The management of Glycogen storage disease IX requires treatment of symptoms by frequent intake of complex carbohydrates and protein to combat the low blood sugar. A nutritionist will advise on suitable diets. Liver function is regularly monitored and problems managed as they arise. However, liver problems have only been successfully treated by a transplant. Routine checks of metabolism are needed to ensure blood sugar (glucose) and ketones are managed. Regular moderate exercise is beneficial, although over-vigorous exercise is to be avoided, especially in those with enlarged livers.[1][7]

See also


  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Goldstein, Jennifer; Austin, Stephanie; Kishnani, Priya; Bali, Deeksha (1993). Pagon, Roberta A; Adam, Margaret P; Ardinger, Holly H; Wallace, Stephanie E; Amemiya, Ann; Bean, Lora JH; Bird, Thomas D; Fong, Chin-To; Mefford, Heather C (eds.). Phosphorylase Kinase Deficiency. Seattle (WA): University of Washington. PMID 21634085. Archived from the original on 2022-12-22. Retrieved 2022-01-30. update 2011
  2. 2.0 2.1 "Glycogen storage disease type IX". Genetics Home Reference. Archived from the original on 2016-07-27. Retrieved 2016-08-06.
  3. 3.0 3.1 Tidy, Colin (21 August 2014). "Glycogen Storage Disorders. GSD information and treatment". Patient Platform. Archived from the original on 7 August 2016. Retrieved 6 August 2016.
  4. "Glycogen storage disease due to phosphorylase kinase deficiency". Orphanet. Archived from the original on 2022-12-22. Retrieved 2016-08-06.
  5. Bernstein, Laurie E; Rohr, Fran; Helm, Joanna R (2015-06-03). Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University. Springer. p. 303. ISBN 9783319146218. Archived from the original on 2022-12-22. Retrieved 6 August 2016.
  6. "Glycogen storage disease IX". OMIM. Johns Hopkins University. Archived from the original on 2022-12-22. Retrieved 2016-08-06.
  7. Fernandes, John; Saudubray, Jean-Marie; van den Berghe, Georges (2013-03-14). Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Science & Business Media. p. 80. ISBN 9783662031476. Archived from the original on 2022-12-22. Retrieved 6 August 2016.

Further reading

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External resources