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Sand Like Uric Acid Crystals in the Diaper!

5498 Views 2 Replies 2 Participants Last post by  DrLANC
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!!

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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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