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What is Glutamine is increased in CSF, blood & urine in which defect: and explain in detail?
Defect in urea cycle Defect Enzyme involved Hyperammonemia type I Carbamoyl phosphate synthase I Hyperammonemia type II Ornithine transcarbamoylase Citrullinemia Arginosuccinate synthase Arginosuccinic aciduria Arginosuccinase Hyperarginemia Arginase In all enzyme deficiency ammonia will increase but cps 1 is rate limiting enzyme so it will increase ammonia most & and increase in ammonia lead to increase in glutamine. NOTE: The only urea cycle disorder that is inheritedX-linked recessively ishyperammonemia type II.