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serum levels average roughly 200 ng/mL at age 20 and decline to approximately 80 ng/mL by age 60

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The more severe form manifests in infancy or early childhood with symptoms that include hypotonia, ataxia, sensorineural hearing loss, developmental delay, and intellectual impairment, At the other end of the spectrum are pathogenic variants in the PRPS1 gene that result in severe or moderate loss of function of PRPP synthetase

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