E77: Disorders of glycoprotein metabolism
Disorders of glycoprotein metabolism, as the name suggests, are a group of conditions that perturb the normal metabolism of glycoproteins in the body. These conditions are typically inherited, which means they are passed down from parents to their offspring through genes. The hallmark of these metabolic disorders is a problem with the synthesis and degradation of glycoproteins, which are proteins with sugar groups attached. Glycoproteins contribute to many body functions so when their metabolism is disrupted, it can have wide-ranging effects. Common symptoms that may manifest due to these disorders include, but are not limited to, organ dysfunction, developmental issues, abnormalities in the skeletal system, and weakness. These disorders often present in early childhood but can also occur later in life. Disease progression is different for each specific disorder within this group and is largely dependent on the severity and type of the glycoprotein that is affected.
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