Hyperuricemia in von Gierke disease is due to the deficiency of the following enzyme:
Purine overproduction and hyperuricemia in von Gierke disease (glucose-6-phosphatase deficiency) occurs secondary to enhanced generation of the PRPP precursor ribose 5-phosphate. The Lesch-Nyhan syndrome, an overproduction hyperuricemia characterized by frequent episodes of uric acid lithiasis and a bizarre syndrome of self-mutilation, reflects a defect in hypoxanthine-guanine phosphoribosyl transferase, an enzyme of purine salvage. Hypouricemia and increased excretion of hypoxanthine and xanthine are associated with xanthine oxidase deficiency. Adenosine deaminase deficiency is associated with an immunodeficiency disease in which both thymus-derived lymphocytes (T cells) and bone marrow-derived lymphocytes (B cells) are sparse and dysfunctional. Ref: Rodwell V.W. (2011). Chapter 33. Metabolism of Purine & Pyrimidine Nucleotides. In D.A. Bender, K.M. Botham, P.A. Weil, P.J. Kennelly, R.K. Murray, V.W. Rodwell (Eds), Harper's Illustrated Biochemistry, 29e.
Defect in hypoxanthine-guanine phosphoribosyl transferase
Glucose-6-phosphatase
Xanthine oxidase
Adenosine deaminase