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USMLE STEP 1

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Question:

1. Hipoxantina-Guanina Fosforibosil transferasa (HGPRT) 2. Converts hipoxantina to IMP and guanina GMP. Hay exceso de acido urico y producción de purinas de novo. 3. Hyperuricemia, Gout (orange sand in diaper), Pissed off (aggression, self mutilation), Retardation, disTonia 4. X linked

Author: Nickolas Prahl



Answer:

Características de Lesch-Nyhan syndrome. 1. Enzima deficiente 2. Función 3. Características clínicas 4. Genética


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