6month M, brought to the OPD with a concern that he is not developing normally. Good feeding, good activity Mild respiratory infection one month prior. Mother says, he doesn’t seem to be as interactive as my other children were at this age. PE reveals delayed developmental milestones and hypotonia. 2 years later the child was found to have involuntary movements and demonstrates tendency to aggressively bite his own lips and fingers. Labs show elevation in Uric acid level Activity of which of the ff enzyme is the most likely cause of this condition ? A. Aspartate carbamoyltransferasw B. Dihydroorotase C. Hypoxanthine guanine phosphoribosyltransferase D. Phosphoribosyl pyrophosphate amidotransferase E. Ribonucleotide reductase F. Thymidylate synthase
If HGPRT is the cause of the case. (Lesch Nyhan Syndrome) What other enzyme can increase in such case?
yes. and what other enzyme would increase because of this cause?
