SAS Centre : Assays : Genetic Enzymes : Urea Cycle Defects


		Supra-Regional Assay Service Centres for Analysis and Clinical Interpretation	Assays

Assays / Genetic Enzymes / Urea Cycle Defects

DISORDER	ENZYME OR TEST
Carbamoyl phosphate synthetase deficiency	Carbamoyl phosphate synthetase
Ornithine transcarbamylase deficiency	Ornithine transcarbamylase
Citrullinaemia*	[14C]-citrulline incorporation
Argininosuccinic aciduria*	[14C]-citrulline incorporation

(* = prenatal diagnosis available)