Glycogen storage disease type IX

Definition:

Glycogen storage disease type IX (GSD-IX), also known as Phosphorylase kinase deficiency, is a disorder of glycogen metabolism. The liver phosphorylase kinase is a heterotetramer that is composed of four copies each of alpha, beta, gamma, and delta (calmodulin) subunits. In liver, the alpha, beta, and gamma subunits are encoded by the PHKA2 gene, the PHKB gene, and PHKG2 gene respectively. Mutation within these genes has been shown to result in GSD type IX. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. GSD IXd, also known as X-linked muscle glycogenosis, is caused by mutation in the PHKA1 gene, which encodes the alpha subunit of muscle phosphorylase kinase. The typical clinical signs of GSD IXd are exercise intolerance, often combined with cramps, myalgia, weakness or myoglobinuria.

References:

[1]. B Burwinkel, et al. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum Mol Genet. 1997 Jul;6(7):1109-15. [Content Brief]

[2]. B Burwinkel, et al. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet. 1998 Jan;7(1):149-54. [Content Brief]

[3]. B Burwinkel, et al. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Hum Mol Genet. 1996 May;5(5):653-8. [Content Brief]

[4]. Deeksha S Bali, et al. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab. 2014 Mar;111(3):309-313. [Content Brief]

[5]. M Wehner, et al. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet. 1994 Nov;3(11):1983-7. [Content Brief]

[6]. Nicholas James Beauchamp, et al. Glycogen storage disease type IX: High variability in clinical phenotype. Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. [Content Brief]

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