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]
- Hepatomegaly
- Growth retardation
- Motor development delay(mild)
- Hyperketotic hypoglycemia
- Hypotonia
Genetics
In terms of genetics, glycogen storage disease type IX can be inherited via:[2][3]
- X-linked recessive inheritance due to mutations at either PHKA1 or the PHKA2(most common[4]) gene
- Autosomal recessive could be the inheritance pattern for an affected individual when the genes PHKB or PHKG2 have a mutation.
Diagnosis
The diagnosis of glycogen storage disease IX consists of the following:[1][5]
- CBC
- Urinalysis
- Histological study of the liver (via biopsy)
- Genetic testing
- Physical exam
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
In terms of management for GSD IX, one finds the following to be medically useful methods:[1][7]
- Nutritionist (metabolic)
- Physical therapist
- Exercise (moderate not excessive)
- Glucose bolus (for hypoglycemia)
See also
References
- 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
- ↑ Reference, Genetics Home. "glycogen storage disease type IX". Genetics Home Reference. Retrieved 2016-08-06.
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Glycogen storage disease due to phosphorylase kinase deficiency". www.orpha.net. Retrieved 2016-08-06.
- ↑ 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.
- ↑ "Glycogen Storage Disorders. GSD information and treatment | Patient". Patient. Parient.info. Retrieved 6 August 2016.
- ↑ "OMIM Entry - # 306000 - GLYCOGEN STORAGE DISEASE IXa1; GSD9A1". www.omim.org. Retrieved 2016-08-06.
- ↑ 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
- Johnson, Abiodun O.; Goldstein, Jennifer L.; Bali, Deeksha (July 2012). "Glycogen Storage Disease Type IX". Journal of Pediatric Gastroenterology and Nutrition. 55 (1): 90–92. doi:10.1097/MPG.0b013e31823276ea.
- Özen, Hasan (14 May 2007). "Glycogen storage diseases: New perspectives". World Journal of Gastroenterology : WJG. 13 (18): 2541–2553. doi:10.3748/wjg.v13.i18.2541. ISSN 1007-9327. PMC 4146814
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