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Biochemistry · Purine salvage and degradation
Sample itemAn infant has recurrent severe infections and absent T and B cell function. Deficiency of adenosine deaminase causes this because accumulating metabolites are toxic to lymphocytes. Which accumulating metabolite mainly inhibits ribonucleotide reductase?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. dATP
Adenosine deaminase deficiency causes adenosine and deoxyadenosine to build up, and deoxyadenosine is converted to dATP in lymphocytes. dATP inhibits ribonucleotide reductase, which blocks DNA synthesis and leads to severe combined immunodeficiency.
Option by option
A. Xanthine
Xanthine is an intermediate in purine breakdown after the adenosine deaminase step and is not what accumulates here.
B. Uric acid
Uric acid is lowered, not raised, in this disorder because purine breakdown is blocked upstream.
C. dATP (correct)
Correct. Accumulated dATP inhibits ribonucleotide reductase and impairs lymphocyte DNA synthesis.
D. Orotic acid
Orotic acid accumulates in pyrimidine synthesis defects such as orotic aciduria, not in adenosine deaminase deficiency.
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.
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