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glycogenosis |
Also found in: Medical | 0.01 sec. |
glycogen storage diseaseor glycogenosisAny of numerous types of hereditary enzyme deficiency resulting in altered metabolism of glycogen. The problems are classified in two groups, those affecting the liver and those involving striated muscle, both primary glycogen storage sites. Symptoms in the liver group range from symptomatic hypoglycemia with ketosis to asymptomatic liver enlargement (hepatomegaly). In the muscle group, they range from weakness and cramps to fatal heart enlargement. 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. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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| 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. |
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