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Author8 Posts
  #1

Which of the following would rule out hyperuricemia in a patient?
a. Lesch-Nyhan syndrome
b. Gout
c. Xanthine oxidase hyperactivity
d. Carbamoyl phosphate synthase deficiency
e. Purine overproduction secondary to Von Gierke’s disease

  #2

D?

Decreased CPS would cause 2 things:

-increased NH3

-decreased pyrimidine synthesis

And not increased Uric Acid.


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  #3

YA-
LESCH NYHAN IS ASSOCUATED WITH HYPERURICEMIA

  #4

B-GOUT IS ASSOCIATED WID HYPERURICEMIA-
XANTHINE OXIDASE OVERACTIVITY WIL LEAD TO INCESWD PROD OF URIC ACID
PURINE OVERPRODUCTION WILL BE ASSOCIATED WITH INCREASD CATABOLISM AND INCREASES URIC ACID PROD

  #5

d as all other option cause hyperurecemia

  #6

so corerect is d

  #7

d

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  #8

The answer is d.
Carbamoyl phosphate (CAP) synthase I is found in mitochondrial matrix and is the first step in urea synthesis, condensing CO2 and NH4+. Hyperammonemia occurs when CAP is deficient.
CAP synthase II forms CAP as the first step in pyrimidine synthesis. Its complete deficiency would probably be a lethal mutation. When its activity is decreased, purine catabolism to uric acid is decreased, decreasing the possibility of hyperuricemia.

In contrast, gout, Lesch-Nyhan syndrome, high xanthine oxidase activity, and von Gierke’s disease [glycogen storage disease type Ia ] all lead to increased urate production and excretion.







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