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]

Genetics

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

Diagnosis

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

  • Lack of amplification of PCR products from exon 27 to exon 30 of the PHKA2 gene (versus control)

    Lack of amplification of PCR products from exon 27 to exon 30 of the PHKA2 gene (versus control)

  • Histological study (Microscope with stained slide)

    Histological study (Microscope with stained slide)

Types

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]

Management

Glucose

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

References

  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

External links

Classification
External resources
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