Purines, Pyrimidines and Nucleic Acid Metabolism
Increased serum uric acid levels occur in
|A||Von Gierke’s disease|
|D||All of the above|
Uric acid is produced due to catabolism of Purine (A+G)
a. Von Gierke’s disease (Type l —glycogenosis) →due to deficiency of G-6-phosphatase.
b. C/f →Hypoglycemia, Lactic acidosis, Hyperlipidemia, and Hypercalcemia. Purine over production and Hyperuricemia occurs secondarily to enhanced generation of the PRPP precursor ribose-5- phosphate
c. Lesch-Nyhan syndrome: → an over production hyperuricemia with frequent uric acid Lithiasis and a bizarre syndrome of self-mutilation, is due to defect in Hypoxanthine —guanine phosphoribosyl transferase (HRPT), an enzyme of purine salvage.
d. Leukemia →Hyperuricemia is due to over production (due to high turnover of cells)
e. Hyperuricemia occurs in → Glycogenosis : - type I (von Gierk’s disease), Type III (Forbe’s or Conis disease) type V (Mc Ardle’ s synd.) and type VIII (Tarui’ s disease)