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3 Cards in this Set
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- Back
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Mutation of PRPP Synthetase
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GOUT ----- due to feed forward activation of purine synthesis . Leads to increase purine degradation, resulting in hyperurecemia.
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Adenosine deaminase ( ADA) deficiency
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Excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase---> prevents DNA synthesis and thus decreased lymphocyte count. Major causes of SCID
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Leach - Nyhan sybdrome
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Defective purine salvage. Absent HGPRT, which converts hypoxanthine to IMP and guanine to GMP. Excess auric acid production.
CF : self mutilation, intellectual disability, hyperurecemia, gout, dystonia, aggression. Rx: Allopurinol or febuxosat |
