kiranmayi
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In a pediatric clinic, a mother brings in her 18-month-old son for evaluation. She reports that he has been biting his lips and fingers in a self-mutilating manner. On further questioning, you discern that she has noticed sandlike granules in his diaper, which are orange in color. Physical examination reveals evidence of multiple bite wounds on the fingers and lips. The patient also has poor head control, choreoathetoid movements, and hyperreflexia. Of which of the following enzymes is this patient deficient?
A. Adenosine phosphoribosyl transferase
B. Hypoxanthine-guanine phosphoribosyl transferase
C. Nucleoside diphosphate kinase
D. Purine nucleoside phosphorylase
E. Xanthine oxidase
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| dxtxpx
Forum Guru
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HGPRT def
Lesh Nyhan
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| kiranmayi
Forum Guru
Topics: 237
Posts: 407
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correct 
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