A patient presented to casualty with nausea, vomiting. Intravenous glucose was given & the patient recovered. After few months, patient presented with same complaints. Blood glutamine was found to be increased. Also uracil levels were raised. What is the diagnosis?
Increase in Blood glutamine indicates hyperammonemia, which occurs in all enzyme defect of urea cycle Increased uracil indicate Ornithine trans carbamoylase deficiency Orotic acid, OMP, UMP are increased in OTC defect. OTC deficiency (Excess carbamoyl phosphate from mitochondria enters cytoplasm and takes pa in pyrimidine synthesis) WITH REGARDS TO OTHER OPTIONS If citrulline is increased then it is Argino succinate synthetase deficiency. ( OPTION II) CPS-II (carbamoyl phosphate synthetase-II) is enzyme involved in pyrimidine synthesis, not in urea cycle. (OPTION III)
CPS-I deficiency
Argino succinate synthetase deficiency
CPS-II deficiency
Ornithine trans carbamoylase deficiency
Urea cycle