Phosphoribosylpyrophosphate Synthetase (PRS) Superactivity: Phenotypes in Males and Females

SexPRS Superactivity PhenotypeOnsetDiagnosis
Male Mild (75% of affected males)2nd or 3rd decade of lifePRS-I enzyme assay 1
Severe (25% of affected males)1st decade of lifePRS-I enzyme assay &/or PRPS1 molecular genetic testing
Female Ranges from mild (typically) to severe (rarely) depending on X-chromosome inactivationDepending on X-inactivation statusPRS-I enzyme assay (in symptomatic females 2) &/or PRPS1 molecular genetic testing
1.

In all males with mild PRS superactivity evaluated to date, the sequence of the PRPS1 coding region and adjacent DNA is normal and the basis of increased rates of PRPS1 transcription is unknown.

2.

Biochemical testing is unlikely to be informative in asymptomatic females.

From: Phosphoribosylpyrophosphate Synthetase Superactivity

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