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Latest revision as of 14:52, 13 October 2025


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The signs of both Pompe and Danon diseases are very related due to a defect in lysosomes. However, in Danon illness, some show abnormal glycogen accumulation, but not all. Exercise-induced muscle cramps, stiffness, ache. Myopathy (together with train-related fatigue, train intolerance, muscle weakness). Muscle biopsy reveals glycogen accumulation. Some GSDs have different kinds, e.g. infantile, juvenile, adult (late-onset). Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D. GSD type 0: Although glycogen synthase deficiency doesn't end in storage of additional glycogen within the liver, it is categorized with the GSDs as type 0 as a result of it is one other defect of glycogen storage and may cause comparable problems. GSD IX has develop into the dominant classification for this disease, grouped with the opposite isoenzymes of phosphorylase-b kinase deficiency. GSD type XI (GSD 11): Fanconi-Bickel syndrome (GLUT2 deficiency), hepatorenal glycogenosis with renal Fanconi syndrome, no longer thought of a glycogen storage illness, boost blood flow naturally but a defect of glucose transport.

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