Loading....
Coupon Accepted Successfully!

Biochemistry

Open Flashcards

Purines, Pyrimidines and Nucleic Acid Metabolism

Question
9 out of 14
 

A male child presents with delayed development and scarring of the lips and hands. His parents have restrained him because he obsessively chews on his lips and fingers, which of the following is likely to occur in this child?



A Increased levels of 5- phosphoribosyl -1 pyrophosphate (PRPP)

B Decreased purine synthesis

C Decreased levels of uric acid

D Glycogen storage.

Ans. A Increased levels of 5- phosphoribosyl -1 pyrophosphate (PRPP)

a. The child has Lesch-Nyhan syndrome an X-linked recessive disorder that is caused by HGPRT enzyme deficiency HGPRT is responsible for the salvage of purines from nucleotide degradation, and its deficiency elevates levels of PRPP, purine synthesis, and uric acid.

b. PRPP is also elevated in glycogen storage diseases due to increased amounts of carbohydrate precursors.

Purines, Pyrimidines and Nucleic Acid Metabolism Flashcard List

14 flashcards
1)
2)
3)
4)
5)
6)
7)
8)
9)
10)
11)
12)
13)
14)