glycogenosis


Also found in: Dictionary, Medical, Wikipedia.

glycogenosis

[′glī·kō·jə′nō·səs]
(medicine)
One of several inborn errors in the metabolism of glycogen, classified on the basis of the enzyme deficiency and clinical findings as von Gierke's disease, Pompe's disease, limit dextrinosis, amylopectinosis, McArdle's disease, or Hers' disease.
References in periodicals archive ?
His family were also told he had pulmonary interstitial glycogenosis - a lung condition - and obstructed total anomalous pulmonary venous drainage, a heart condition.
His family were also told he had pulmonary interstitial glycogenosis -a lung condition -and obstructed total anomalous pulmonary venous drainage, a heart condition.
Glycogen storage disease (GSD) or glycogenosis include hereditary diseases caused by abnormalities of the enzymes that regulate the synthesis and degradation of glycogen.
Included in this group are disorders presenting as a predominant hypoglycaemia like glycogenosis, gluconeogenesis defects and hyperinsulinism, the fatty acid oxidation disorders, and the congenital lactic acidaemias (deficiencies of pyruvate carboxylase, pyruvate dehydrogenase, Krebs cycle and mitochondrial respiratory chain disorders).
A number of studies have reported DCA-induced suppression of apoptosis, decreases in insulin, and glycogenosis in mouse liver at levels that also induce liver tumors (Bull 2004; Bull et al.
These disorders affect the breakdown of glycogen or glucose (complex and simple carbohydrates) and are also called glycogenosis disorders.
Glycogenosis Type II: Protein and DNA analysis in five South African families from various ethnic origins.
2) The most common type, glycogenosis VII or Tarui's disease in its classical form, is characterized by the coexistence of muscle disease and moderate hemolysis.
However, identical or similar inclusions can be seen in other disorders thoroughly reviewed recently, such as type IV glycogenosis and Lafora disease.
Glycogenosis type VII (Tarui's disease) is due to lack of PFK, an enzyme of the Embden-Meyerhof pathway of glucose metabolism catalyzing the conversion of fructose 6-phosphate to fructose 1,6 biphosphate.