Urea Cycle Defects Flashcards
Plasma AA levels and Urine Orotic acid levels for carbamoyl phosphate synthetase 1
Inc: Glutamine and alanine
Dec: Citruline
OA: absent/normal
Plasma AA levels and Urine Orotic acid levels for ornithine transcarbamoylase
Inc: Glutamine and Alanine
Dec: Citruline
OA: Very High
Plasma AA levels and Urine Orotic acid levels for argininosuccinate synthetase
Inc: Very High Citruline
OA: High
Plasma AA levels and Urine Orotic acid levels for argininosuccinate lyase
Inc: Argininosuccinate (urine)
Dec: Arginine
OA: High
Plasma AA levels and Urine Orotic acid levels for arginase
Very High Arginine
Mildly high Argininosuccinate(urine)
OA: high
Plasma AA levels and Urine Orotic acid levels for NAG synthetase
Inc: Glutamine and alanine
Dec: Citruline
OA: absent/normal