The deficiency of arginase results in the clinical disease, argininemia. This enzyme plays a key role in the urea cycle. Our protocol measures the conversion of arginine into urea.
Urea production is measured colorimetrically.
Liver specimens should be quick frozen immediately after obtaining the specimen. Do not add any liquid to the specimen prior to freezing. Store at -70 degrees C and ship the specimen on dry ice. Prenatal diagnosis of this disorder cannot be performed as a biochemical procedure. Such studies may be accomplished by DNA analysis in some laboratories.