Glycogen storage disease type IX GudangMovies21 Rebahinxxi LK21

    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.


    Signs and symptoms


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

    Enlarged liver
    Slowed growth
    Motor development delay (mild)
    Low blood sugar accompanied by ketosis
    Lack of muscle tone
    Most of these signs and symptoms diminish as adulthood sets in.


    Genetics


    Glycogen storage disease type IX can be inherited via:

    X-linked recessive inheritance due to mutations at either PHKA1 or the PHKA2 (most common) 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:

    Complete blood count
    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 liver of an individual. Mutations in PHKA2 have been seen in individuals with glycogen storage disease IXa2.


    Management



    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.


    See also


    Glycogen storage disease


    References




    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. PMID 21857251.
    Özen, Hasan (14 May 2007). "Glycogen storage diseases: New perspectives". World Journal of Gastroenterology. 13 (18): 2541–2553. doi:10.3748/wjg.v13.i18.2541. ISSN 1007-9327. PMC 4146814. PMID 17552001.
    Albash, Buthainah; Imtiaz, Faiqa; Al-Zaidan, Hamad; Al-Manea, Hadeel; Banemai, Mohammed; Allam, R.; Al-Suheel, Ali; Al-Owain, Mohammed (2014). "Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature". European Journal of Pediatrics. 173 (5): 647–653. doi:10.1007/s00431-013-2223-0. ISSN 1432-1076. PMID 24326380. S2CID 37564174.
    Tubbs, Raymond R.; Stoler, Mark H. (2009). Cell and tissue based molecular pathology (1st ed.). Philadelphia: Churchill Livingstone/Elsevier. ISBN 978-1437719482. Retrieved 6 December 2017.


    External links



    Media related to Glycogen storage disease type IX at Wikimedia Commons

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