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24 year old man with episodic anemia, jaundice, and dark urine. Episodes occur after use of certain drugs or infection. Has a brother with similar episodes. Blood smear reveals bite cells. Deficiency of what enzyme results in a condition similar to this patients presentation?

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Based on the symptoms described, it is likely that the patient has Gilbert's syndrome, also known as hypopigmentation syndrome. This is a genetic condition that affects the metabolism of bilirubin, a yellow pigment that is produced by the breakdown of old red blood cells.

Gilbert's syndrome results from a deficiency of the enzyme uridine diphosphate-glucose pyrophosphorylase (UDPGP), which regulates the metabolism of bilirubin. In this condition, the patient experiences episodes of jaundice, dark urine, and anemia. Additionally, the presence of bite cells on a blood smear is consistent with Gilbert's syndrome.

It is worth noting that Gilbert's syndrome is generally considered a benign condition and does not usually cause any significant health problems. However, it can be mildly uncomfortable for patients during episodes of jaundice, and they may require follow-up care to manage their symptoms.

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User Sheileen
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