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Phosphoribosylpyrophosphate synthetase superactivity

Summary

Excerpted from the GeneReview: Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoribosylpyrophosphate synthetase (PRS) superactivity comprises two phenotypes, both characterized by hyperuricemia and hyperuricosuria. The mild phenotype (~75% of affected males) with onset in the second or third decade of life is typically limited to these biochemical findings, whereas the severe phenotype (~25% of affected males) with onset in the first decade of life has in addition to these biochemical findings variable combinations of developmental delay (DD) / intellectual disability (ID), sensorineural hearing loss, hypotonia, and ataxia. In the mild phenotype, uric acid crystalluria or a urinary stone is commonly the first clinical finding, followed later by gouty arthritis if serum urate concentration is not controlled.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Arjan PM de Brouwer
John Christodoulou
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Available tests

57 tests are in the database for this condition.

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Clinical tests (57 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI, PRPS1
    Summary: phosphoribosyl pyrophosphate synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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