PTERINS - urine

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Specimen: Random urine.

Method: HPLC.

Reference Interval: See Table 6 .

Application: Diagnosis of malignant hyperphenylalaninaemia, a rare variant of PKU. The test should be done in all patients with newly diagnosed PKU.

Interpretation: Classical phenylketonuria shows predominance of tetrahydrobiopterin; patients with malignant hyperphenylalaninaemia show a different pattern of urinary pterins than do those with PKU. See also NEOPTERIN .

Reference: Kaufman S. J Inher Metab Dis 1985; 8: 20-27.

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