Table 4.

Major Clinical Findings in PRPS1-Related Disorders by Phenotype

PhenotypeClinical Finding
Gouty arthritis 1Peripheral neuropathyIntellectual disabilitySNHL 2Other
PRS super-activityInfantile onset++++Hypotonia, ataxia
Juvenile/ adult onset+One individual
DFN2Profound postlingual / congenital
CMTX5+Early onsetOptic neuropathy
Arts syndrome+Profound, congenitalHypotonia, ataxia, optic atrophy, ↑ risk infection

Associated with hyperuricemia, hyperuricosuria


SNHL = sensorineural hearing loss

From: Phosphoribosylpyrophosphate Synthetase Superactivity

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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