glycogenosis

glycogen storage disease

 or glycogenosis

Any 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.

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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.