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Glucogen storage diseases

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Glucogen storage diseases are a related group of rare inherited autosomal recessive diseases, where muscle may not metabolize sugar normally, and sugars build up large stores of starch (glycogen). The most serious type of glycogen storage disease is Pope disease and it usually starts in the first year of life. Glycogen concentrates in the muscle, liver, heart, and nerves, preventing them from proper functioning. The heart, tongue, and liver enlarges. Children with Pope disorder become extremely weak and floppy, as infants. They experience difficulties breathing and swallowing. Pompe disease may not be cured. Most infants with Pompe disease die by age two. Less serious types of Pompe diseases may affect adults and older children, resulting in the legs and arm weakness and decreased ability to breath deeply. Individuals with other types of Glucogen storage diseases experience weakness and painful cramps, especially after exercises; such symptoms may range from mild to severe and may be relieved by avoiding exercising. Injury to the muscle results in myoglobin (protein) to be released into the bloodstream. Because protein myoglubin is excrete in the urine, it may be measured with urine tests, which help diagnose glucogen storage diseases. Protein Myoglobin can harm the kidney. Myoglobin can harm the kidney and the level may be lowered by limiting exercising. Drinking enough fluids, mostly after exertion, may dilute the amount of myoglobin. When protein myoglobin amount is high, a physician can order diuretics to prevent damage to the kidneys.


Category Disease Conditions > G
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Date Submitted 12-Nov-2005

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