High‐performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man

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Abstract
Argininosuccinate (ASA) is determined in a few minutes with little manipulation by reversed phase high-performance liquid chromatography (HPLC) usingO-phthaldialdehyde. The two cyclic anhydrides of ASA are not formed during analysis but, if present, can be determined simultaneously. As little as 1 nl urine from a patient with argininosuccinic aciduria was sufficient for analysis; the ASA/creatinine ratio was 50.8 mmol g−1 and daily excretion was 5–7g ASA. We found small amounts of the two anhydrides in the patient's urine and we give factors to estimate, from their peaks, the corresponding amount of ASA. Urine from normal children showed a small acid-labile (at 100°C) peak at the ASA position, which we tentatively assign to genuine ASA. From this peak −1 were excreted in our controls. Procedures for collection and storage of samples and the potential of this method for heterozygote detection are discussed.