A ten-year-old child with aggressive behavior and poor concentration is brought with presenting complaints of joint pain and reduced urinary output. Mother gives history of self-mutilative behavior stating that he tends to mutilate his fingers. Which of the following enzymes is likely to be deficient in this child?
HGPase
Adenosine deaminase
APase
Acid maltase
HGP is a transferase that catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. This reaction transfers the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (PRPP) to the purine. HGP plays a central role in the generation of purine nucleotides through the purine salvage pathway
Metabolism of nucleic acids