Glycogen storage disease type IV

Glycogen storage disease type IV
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Glycogen_storage_disease_type_IV".

content


Glycogen storage disease type IV Classification and external resources
Glycogen
ICD-10	E 74.0
ICD-9	271.0
OMIM	232500
DiseasesDB	5303
eMedicine	med/910 ped/97
MeSH	D006011

Glycogen storage disease type IV is a very rare hereditary metabolic disorder.

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

Synonyms

It is also known as:-

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

Eponym

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

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 amylopectin) 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 end result is liver failure and eventual death occurring in the first year of life.

Horse pathology

See main article: Glycogen branching enzyme deficiency

References

^ synd/78 at Who Named It
^ D. H. Andersen. Familial cirrhosis of the liver with storage of abnormal glycogen. Laboratory Investigation, Baltimore, 1956, 5: 11-20.
^ Andersen DH (1956). "Familial cirrhosis of the liver with storage of abnormal glycogen". Lab. Invest. 5 (1): 11–20. PMID 13279125.

External links

v • d • e Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271)

Disaccharide catabolism	Lactose intolerance - Sucrose intolerance

Monosaccharide catabolism	fructose: Essential fructosuria - Fructose intolerance galactose/galactosemia : Galactokinase deficiency - Galactose-1-phosphate uridylyltransferase galactosemia - Galactose epimerase deficiency

Monosaccharide transport	Glucose-galactose malabsorption - Inborn errors of renal tubular transport (Renal glycosuria)

Glycolysis	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

Glycogenesis	GSD type 0, glycogen synthase - GSD type IV, Andersen's, branching

Glycogenolysis	GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatase

Pentose phosphate pathway	Glucose-6-phosphate dehydrogenase deficiency - Pentosuria

Other	Hyperoxaluria (Primary hyperoxaluria)

see also glycolysis enzymes, pentose phosphate pathway enzymes, fructose and galactose metabolism enzymes

This disease article is a stub. You can help Wikipedia by expanding it.

This genetic disorder article is a stub. You can help Wikipedia by expanding it.

Your Ad Here