Posted: July 24th, 2017

A 4-year-old boy has delayed motor development and choreoathetosis. He had normal development at birth. He chews his fingers and lips, which has resulted in tissue loss. He has arthritis. Serum and urine uric acid concentrations are increased. Which of the following abnormalities is the most likely cause of these findings?

A 4-year-old boy has delayed motor
development and choreoathetosis. He had normal
development at birth. He chews his fingers and
lips, which has resulted in tissue loss. He has
arthritis. Serum and urine uric acid
concentrations are increased. Which of the
following abnormalities is the most likely cause
of these findings?
(A) Adenine phosphoribosyltransferase
deficiency
(B) Hypoxanthine-guanine
phosphoribosyltransferase
deficiency
(C) Increased cellular turnover of nucleic
acids
(D) Increased conversion of hypoxanthine
to inosine monophosphate
(E) Phosphoribosylpyrophosphate
synthetase deficiency