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Old 12-13-2009
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Question Sand Like Uric Acid Crystals in the Diaper!

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!!

Sand Like Uric Acid Crystals in the Diaper!-xlinkrecessive.jpg
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Old 12-13-2009
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1. It's Lesch–Nyhan syndrome (x-linked recessive)
2. Mutation in the HPRT gene
3. Deficiency of Hypoxanthine- guanine phosphoribosyltransferase (HGPRT) enzyme

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Biochemistry-, Figures-, Genetics-, Step-1-Questions, Syndromes-Acronyms

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