glycogenosis


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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 ?
West, "Hepatomegaly and abnormal liver tests due to glycogenosis in adults with diabetes," Medicine, vol.
PGB accumulation is best known in the exceptionally rare infantile metabolic disorders of glycogenosis (almost exclusively type IV [1] and possibly type VII [5], in which CNS involvement, though, still remains to be clearly shown).
Ravaglia et al., "Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years," Journal of Neurology, vol.
The nominalisation with suffixes like "-osis" ("glycogenosis" < "glycogen"; "legionellosis" < "legionella"; "brucellosis" < "brucella"; "mastocytosis" < "mastocyte"; "sialidosis" < "sialidase") and "-ism" ("albinism", "botulism") is frequent as well.
It is known by several names: acid maltase deficiency; glycogen storage disease type II; and glycogenosis type II.
Interstitial lung diseases in the childhood including "pulmonary interstitial glycogenosis", "neuroendocrine cell hyperplasia of infancy" and "genetic disorders of surfactant metabolism" are diagnosed more frequently in the first year of life (4).
The major causes of hepatomegaly and elevated transaminases in patients with diabetes mellitus are glycogenosis or fatty liver and non-alcoholic steatohepatitis (NASH).
Having suffered from various forms of lung disease, including bronchiolitis obliterans, pulmonary interstitial glycogenosis, bronchiectasis and eosinophil esophagitis throughout his life, Jack has become something of an activist, raising more than $12,000 for various aspects of his treatment to cover his family's expenses and, most recently, to provide other patients at UMass Memorial Medical Center with "a little bit of fun."
* in the liver, stimulates storage of glucose (glycogenesis) and inhibits glycogenosis and gluconeogenesis.
The fundamental mechanism underlying hyperglycemia in diabetes mellitus involves overproduction (excessive hepatic glycogenosis and gluconeogenesis) and decreased utilization of glucose by the tissues, and the pathogenesis of diabetes always involves disturbances in carbohydrate, fat, and protein metabolism.
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.