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-   -   Sand Like Uric Acid Crystals in the Diaper! (https://www.usmle-forums.com/usmle-step-1-forum/1061-sand-like-uric-acid-crystals-diaper.html)

DrLANC 12-13-2009 11:27 AM

Sand Like Uric Acid Crystals in the Diaper!
 
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One of the first symptoms of this disease is the presence of sand-like crystals of uric acid in the diapers of the affected infant.
There is also self injuring behavior and nervous system impairment.
What is the name of the disease? What is the gene that is mutated? What enzyme does this gene encode?
Let me know!!

Attachment 226

HouseWannabe 12-13-2009 11:32 AM

1. It's Lesch–Nyhan syndrome (x-linked recessive)
2. Mutation in the HPRT gene
3. Deficiency of Hypoxanthine- guanine phosphoribosyltransferase (HGPRT) enzyme


DrLANC 12-13-2009 11:36 AM

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