Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features ++ X-linked recessive disorder Manifests in boys with spasticity, dystonia, and self-mutilating behaviors Urinary uric acid to creatinine ratio or urine succinylpurines are useful screening tests. +++ Clinical Findings ++ Complete deficiency is characterized by CNS dysfunction and purine overproduction with hyperuricemia and hyperuricosuria Choreoathetosis Spasticity Compulsive, mutilating lip and finger biting Gouty arthritis Urate ureterolithiasis +++ Diagnosis ++ Elevated uric acid-creatinine ratio in urine Demonstration of enzyme deficiency in red blood cells or fibroblasts or by molecular analysis +++ Treatment ++ Hyperhydration and alkalinization are essential to prevent kidney stones and urate nephropathy Allopurinol and probenecid may be given to reduce hyperuricemia and prevent gout but do not affect the neurologic status Physical restraints are often more effective than neurologic medications for automutilation Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth