Glycogen storage disease type IX

Glycogen storage disease IX
Glycogen
Classification and external resources
ICD-10 E74.09
GeneReviews

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

Symptoms/signs

Among the symptoms (and signs) one finds in glycogen storage disease are(usually most diminish as adulthood sets in):[1]

Genetics

In terms of genetics, glycogen storage disease type IX can be inherited via:[2][3]

Diagnosis

Histological study (Microscope with stained slide)

The diagnosis of glycogen storage disease IX consists of the following:[1][5]

Types

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

Management

Glucose

In terms of management for GSD IX, one finds the following to be medically useful methods:[1][7]

See also

References

  1. 1 2 3 4 Goldstein, Jennifer; Austin, Stephanie; Kishnani, Priya; Bali, Deeksha (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C., eds. Phosphorylase Kinase Deficiency. Seattle (WA): University of Washington, Seattle. PMID 21634085.update 2011
  2. Reference, Genetics Home. "glycogen storage disease type IX". Genetics Home Reference. Retrieved 2016-08-06.
  3. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Glycogen storage disease due to phosphorylase kinase deficiency". www.orpha.net. Retrieved 2016-08-06.
  4. Bernstein, Laurie E.; Rohr, Fran; Helm, Joanna R. Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University. Springer. p. 303. ISBN 9783319146218. Retrieved 6 August 2016.
  5. "Glycogen Storage Disorders. GSD information and treatment | Patient". Patient. Parient.info. Retrieved 6 August 2016.
  6. "OMIM Entry - # 306000 - GLYCOGEN STORAGE DISEASE IXa1; GSD9A1". www.omim.org. Retrieved 2016-08-06.
  7. Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den. Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Science & Business Media. p. 80. ISBN 9783662031476. Retrieved 6 August 2016.

Further reading

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