Phenylketonuria is a buildup of phenyl ketones in the blood and ultimately the urine which causes disease. Maple syrup disease gets its name because the urine smells like maple syrup. It is caused by the buildup of alphaketoacids in the blood from a deficiency of branchedchain alphaketoacid dehydrogenase. Alkaptonuria is caused by elevated levels of homogentisic acid. Homocystinuria is caused by a buildup of homocysteine from different enzymes being deficient in the metabolism of homocysteine.

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