What is a specific finding in the urine of individuals with Morquio Syndrome?

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In individuals with Morquio Syndrome, a specific finding in the urine is the presence of glycosaminoglycans (GAGs). Morquio Syndrome, also known as Mucopolysaccharidosis type IV (MPS IV), is characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase. This deficiency leads to the accumulation of GAGs, particularly keratan sulfate and chondroitin-6-sulfate, in the body, which is subsequently excreted in the urine.

The identification of elevated levels of glycosaminoglycans in a urine sample is a critical diagnostic marker for Morquio Syndrome. It signals the underlying metabolic disorder related to the abnormal degradation of GAGs, which is central to the pathophysiology of this condition.

Other findings, such as a sweet odor in the urine or cherry red spots in the eyes, are associated with different metabolic disorders (like Maple Syrup Urine Disease or certain types of retinal degeneration, respectively) and elevated total amino acids would not specifically indicate Morquio Syndrome.

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