Try it
Biochemistry · Purine salvage: hypoxanthine-guanine phosphoribosyltransferase
Sample itemFibroblasts from a boy with urate overproduction show a markedly raised intracellular PRPP concentration and an increased rate of de novo purine synthesis. Which enzyme is absent?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Hypoxanthine-guanine phosphoribosyltransferase
Without the salvage enzyme PRPP is not consumed in recycling guanine and the hypoxanthine base, so it accumulates and drives amidophosphoribosyltransferase. The result is overproduction of purines and urate. Salvage therefore restrains de novo synthesis in a healthy cell.
Option by option
A. Adenine phosphoribosyltransferase
Adenine phosphoribosyltransferase deficiency causes 2,8-dihydroxyadenine stones and does not raise urate.
B. Hypoxanthine-guanine phosphoribosyltransferase (correct)
Correct. Failure of salvage leaves PRPP unconsumed and de novo purine synthesis runs unchecked.
C. Adenosine deaminase
Adenosine deaminase deficiency accumulates deoxyadenosine in lymphocytes and lowers urate.
D. Xanthine oxidase
Xanthine oxidase deficiency reduces urate formation and does not raise PRPP.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
More Biochemistry questions
- Purine salvage: hypoxanthine-guanine phosphoribosyltransferaseA boy with severe gout and renal stones is treated with allopurinol and his urate falls…
- Purine salvage: hypoxanthine-guanine phosphoribosyltransferaseA 22-year-old man with normal intelligence develops early gout and uric acid stones. Enz…
- Nucleotide metabolismA 4-year-old boy has intellectual disability, dystonia, self-mutilation and hyperuricaem…
- VitaminsA patient with megaloblastic anaemia and mild neurological signs has raised serum methyl…