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31 Cards in this Set
- Front
- Back
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Gout
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is caused by an increase in uric acid production.
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ADA deficiency (Adenosine Deaminase deficiency)
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accounts for 15% of all SCIDs patients. ADA is the enzyme responsible for the conversion of adenosine to inosine in the breakdown of AMP.
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Lesch-Nyhan Syndrome
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is due to a deficiency in HGPRT (Hypoxanthine-Guanine Phosphoribosyl Transferase).
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Ribose-5-Phosphate
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Produced from Pentose Phosphate Pathway and is used in the synthesis of both ATP and GTP.
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PRPP synthetase
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is the first step in the conversion of Ribose-5-phosphate to PRPP (Phosphoribosyl-1-Pyrophosphate).
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IMP-Inosine monophosphate
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is the branch point in the purine nucleotide pathway.
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PRPP synthease is regulated by AMP
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True, ADP and ATP as well.
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PRPP synthease is regulated by GMP
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True
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PRPP synthease is regualted by GTP
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True
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PRPP synthease is regulated by ADP
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True
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HGPRT
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is the enzyme responsible for the conversion of Guanine to GMP and is deficient in Lesch-Nyhan Syndrome.
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APRT
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is the enzyme responsible for the conversion of adenine to AMP.
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High Uric Acid levels
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are a common sign of gout.
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CPS-II
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is responsible for the conversion of glutamine, carbon dioxide, and ATP to carbamoyl phosphate.
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Ribonucleotide reductase
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is responsible for the removal of the 2' OH group from the ribose sugar.
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Thymidylate Synthase
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is responsible for the conversion of dUMP to dTMP.
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Severe combined immunodeficiency syndrome (SCIDs)
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Results in a genetic loss of adenosine deaminase
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Nucleotide Metabolism
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Nucleotide Metabolism
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Purine Synthesis
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Purine Metabolism Regulation
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_____ causes hyperuricemia, uric aciduria, juvenile onset of uric acid stone formation, gouty arthritis, and self mutilation.
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Lesch-Nyhan Syndrome
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Purine Breakdown
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Uric Acid Formation
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An overproduction of purines causes _____, in which excess uric acid crystals lodge in small capillaries, especially in joints and toes.
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gout
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adenosine deaminase
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adenosine→inosine; deletion or mutation results in SCIDS
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Infants with an inherited _____ deficiency have profound lymphocyte depletion, lack both cellular and humoral immune function.
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adenosine deaminase (ADA)
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Pyrimidine Synthesis
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how many rings do pyrimidines have?
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one
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Ribonucleotide Reductase
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TTP Synthesis
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pyrimidine degradation
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