Urea cycle disorders Flashcards
1
Q
The only X-linked urea cycle disorder is
A
OTC deficiency
2
Q
Name the biochemical findings in OTC deficiency
A
LOW serum citrulline
HIGH urinary orotic acid
High ammonia, metabolic acidosis with resp alkalosis
3
Q
How can you tell the difference between OTC deficiency and carbamoyl phosphate synthetase deficiecy?
A
both have low serum citrulline, but OTC deficiency has high urine orotic acid, while CPS1 has normal urine orotic acid
4
Q
A
