https://www.gosh.nhs.uk/wards-and-departments/departments/laboratory-medicine/laboratory-database/carbamoyl-phosphate-synthase/

Carbamoyl phosphate synthase

EPIC

Carbamoyl phosphate synthetase deficiency (urea cycle disorder)

Section

Chemical Pathology - Enzyme

Clinical indications

For the diagnosis of carbamoyl phosphate synthetase defiency (urea cycle disorder), an inherited disorder that causes ammonia to accumulate in the blood

Specimen requirement

Liver biospy

Dispatch and handling instructions

Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

Turnaround time

6 weeks

Synonym

Carbamoyl-phosphate synthase deficiency disease, Carbamyl-phosphate synthetase deficiency disease