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Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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This condition can be diagnosed prenatally by culture of amniotic fluid and estimation of the relevant enzyme.

Post-natal diagnosis is possible on a single hair root by assessment of reduced erythrocyte hypoxanthine-guanine phosphoribosyltransferase (HPRT).

There is hyperuricaemia, of about the same level as in gout.

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