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Glycosaminuria, also known as partylglucosaminuria, is a rare inherited metabolic disorder caused by a deficiency of the enzyme lysosomal alpha-glucosidase. This enzyme is responsible for breaking down certain complex sugars, such as glycosaminoglycans, which are found in the body's connective tissues. Without this enzyme, these sugars accumulate in the body, leading to a variety of symptoms. Symptoms of glycosaminuria can include developmental delays, seizures, and vision and hearing problems. Treatment typically involves dietary changes and enzyme replacement therapy.
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