USMLE Step 1- Lesson 65 - Phenylketonuria PKU, maple syrup disease, alkaptonuria, and Homocystinuria

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 alpha-keto-acids in the blood from a deficiency of branched-chain alpha-ketoacid 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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