Purines, Pyrimidines and Nucleic Acid Metabolism
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|
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.