mjl1717
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Describe 2 enzyme abnormalities that contribute to hyperuricemia.
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| mjl1717
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Cmon guys! :shock:
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| skaplan
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HGPRT deficiency
Aldolase B deficiency
Galactose-1-phosphate uridyltransferase deficiency
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| mjl1717
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Excellent
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| phuluong2k
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sorry
Plz explain Aldolase B deficiency , Galactose-1-phosphate uridyltransferase deficiency & gout
Thanks
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| skaplan
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HGPRT normally converts hypoxanthine and guanine to IMP and GMP in the purine salvage pathway, deficiency of the enzyme is associated with increased hypoxanthine and guanine diverting them to xanthine formation and excretion as uric acid.
Aldolase B responsible for formation of DihydroxyacetonePand glyderaldehyde from fructose 1 phosphate so enzyme deficiency leads to increased fructose 1 phosphate
Galactose 1 phosphate uridyl transferase responsible for conversion of glucose 1P from galactose 1 phosphate so deficiency of enzyme__increased galactose 1 phosphate
in the above 2 deficiencies accumulation of the highlighted products
leads to trapping of the phosphate making it unavailable to form ATP from ADP so AMP accumulates and excess AMP is broken down to uric acid.
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| mjl1717
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well said!
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| mjl1717
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well said!
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| phuluong2k
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thanks, nice info
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