Affect of Enzyme Deficiencies

Question 1

CPS I

Answer 1

High blood NH3, Low blood orotate, citrulline, and arginine.

Question 2

Ornithine transcarbamoylase (OTC)

Answer 2

High blood and urine orotic acid (orotate), high blood NH3, low citrulline and arginine. (most common defect)

Question 3

Argininosuccinate synthetase

Answer 3

Highly elevated blood citrulline high blood NH3, low blood arginine

Question 4

Argininosuccinate lyase

Answer 4

Elevated blood citrulline, high NH3, high argininosuccinate, low blood arginine

Question 5

Arginase

Answer 5

high blood arginine, moderately high NH3

Question 6

high blood arginine, moderately high NH3

Answer 6

Arginase

Question 7

Elevated blood citrulline, high NH3, high argininosuccinate, low blood arginine

Answer 7

Argininosuccinate lyase

Question 8

Highly elevated blood citrulline high blood NH3, low blood arginine

Answer 8

Argininosuccinate synthetase

Question 9

High blood and urine orotic acid (orotate), high blood NH3, low citrulline and arginine. (most common defect)

Answer 9

Ornithine transcarbamoylase (OTC)

Question 10

High blood NH3, Low blood orotate, citrulline, and arginine.

Answer 10

CPS I