Glycogen storage disease type IV

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Glycogen storage disease type IV
Classification and external resources
Glycogen
ICD-10	E74.0
ICD-9	271.0
OMIM	232500
DiseasesDB	5303
eMedicine	med/910 ped/97
MeSH	D006011

Glycogen storage disease is a rare hereditary metabolic disorder.

Contents 1 Synonyms 2 Eponym 3 Human pathology 4 Horse pathology 5 References 6 External links

[edit] Synonyms

It is also known as:-

• Glycogenosis type IV,
• Glycogen Branching Enzyme Deficiency (GBED),
• polyglucosan body disease.
• Amylopectinosis

[edit] Eponym

The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen.^[1][2][3]

[edit] Human pathology

It is a result of the absence of the glycogen branching enzyme amylo-1,4-1,6 transglucosidase, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules (known as amylose) have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The probable end result is cirrhosis and death by age 5 years.

[edit] Horse pathology

See main article: Glycogen branching enzyme deficiency

[edit] References

[edit] External links

• 697958448 at GPnotebook

v • d • e Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73-74, 271) Sucrose, transport (extracellular) Disaccharide catabolism Lactose intolerance · Sucrose intolerance Monosaccharide transport Glucose-galactose malabsorption · Inborn errors of renal tubular transport (Renal glycosuria) · Fructose malabsorption Hexose → glucose Monosaccharide catabolism fructose: Essential fructosuria · Fructose intolerance galactose/galactosemia : GALK deficiency · GALT deficiency/GALE deficiency Glucose ⇄ glycogen Glycogenesis GSD type 0, glycogen synthase · GSD type IV, Andersen's, branching Glycogenolysis extralysosomal: GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase · GSD type III, Cori's, debranching lysosomal/LSD: GSD type II, Pompe's, glucosidase Glucose ⇄ CAC Glycolysis MODY 2 · GSD type VII, Tarui's, phosphofructokinase · Triosephosphate isomerase deficiency · Pyruvate kinase deficiency Pyruvate catabolism PDHA · Fumarase deficiency Gluconeogenesis PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6-phosphatase Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency · Pentosuria Other Hyperoxaluria (Primary hyperoxaluria) see also fructose and galactose metabolism enzymes, intermediates; see also glycolysis enzymes, intermediates see also glycogenesis and glycogenolysis enzymes, intermediates; see also pentose phosphate pathway enzymes, intermediates

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