Glycogen storage disease

Definition:

Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused by a defect in an enzyme gene or a transporter gene involved in glycogen metabolism; types I, VII, and XI for processing of glucose, types II-VI and IX for processing of glycogen, and type 0 for glycogen synthesis. Pompe disease (type II) is a lysosomal storage disease.

References:

[1]. Ali-Reza Moslemi, et al. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med. 2010 Apr 1;362(13):1203-10. [Content Brief]

[2]. Barbara Burwinkel, et al. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005 Jun;76(6):1034-49. [Content Brief]

[3]. David A Weinstein, et al. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab. 2006 Apr;87(4):284-8. [Content Brief]

[4]. G P Comi, et al. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann Neurol. 2001 Aug;50(2):202-7. [Content Brief]

[5]. Hasan Ozen, et al. Glycogen storage diseases: new perspectives. World J Gastroenterol. 2007 May 14;13(18):2541-53. [Content Brief]

[6]. J Hendrickx, et al. Genetic deficiencies of the glycogen phosphorylase system. Hum Genet. 1996 May;97(5):551-6. [Content Brief]

[7]. J J Shen, et al. Molecular characterization of glycogen storage disease type III. Curr Mol Med. 2002 Mar;2(2):167-75. [Content Brief]

[8]. J Kreuder, et al. Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. N Engl J Med. 1996 Apr 25;334(17):1100-4. [Content Brief]

[9]. Janice Yang Chou, et al. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med. 2002 Mar;2(2):121-43. [Content Brief]

[10]. M Maekawa, et al. Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. Biochem Biophys Res Commun. 1990 Apr 30;168(2):677-82. [Content Brief]

[11]. Nina Raben, et al. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002 Mar;2(2):145-66. [Content Brief]

[12]. R Santer, et al. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. Curr Mol Med. 2002 Mar;2(2):213-27. [Content Brief]

[13]. S Dimaur, et al. Myophosphorylase deficiency (glycogenosis type V; McArdle disease). Curr Mol Med. 2002 Mar;2(2):189-96. [Content Brief]

[14]. Shimon W Moses, et al. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med. 2002 Mar;2(2):177-88. [Content Brief]

[15]. Tanya Stojkovic, et al. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med. 2009 Jul 23;361(4):425-7. [Content Brief]

[16]. Yoon S Shin, et al. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol. 2006 Jun;13(2):115-20. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.