E76: Disorders of glycosaminoglycan metabolism
Disorders of glycosaminoglycan metabolism, also known as mucopolysaccharidoses, are a group of inherited metabolic illnesses. These conditions occur when the body lacks specific enzymes necessary to break down and recycle molecules known as glycosaminoglycans (GAGs). These molecules are essential for the building of bones, cartilage, skin, tendons, and many other tissues in the body. When these molecules cannot be broken down due to a lack of enzymes, they build-up in the body tissues, causing progressive damage. Symptoms vary widely and may include abnormal bone size or shape, joint stiffness, coarse facial features, enlarged liver and spleen, heart and respiratory complications, and in some cases intellectual disability. Symptoms typically become apparent in childhood and can gradually worsen over time as more GAGs accumulate. These disorders are inherited, meaning they are passed on from parents to their children through their genes.
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