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identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the PRPS1 gene cause PRS superactivity. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce phosphoribosyl pyrophosphate (PRPP). PRPP is involved in making molecules called nucleotides. Nucleotides are the building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. Nucleotides are categorized into two groups: purines and pyrimidines. In addition to making new nucleotides, PRPP synthetase 1 and PRPP also play a key role in recycling purines, which is a faster and more efficient way of making purines available for the cell.</p><p>In people with severe PRS superactivity, pathogenic variants in the PRPS1 gene change single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme. As a result, the enzyme is poorly regulated and cannot be turned off, leading to an overactive enzyme.</p><p>In people with mild PRS superactivity, the PRPS1 gene is overactive for reasons that are not well understood. PRPS1 gene overactivity increases the production of the PRPP synthetase 1 enzyme.</p><p>In both forms of the disorder, increased PRPP synthetase 1 enzyme activity leads to increased PRPP production, which causes the cell to make too many purines. When these excess purines are broken down, uric acid is produced and builds up in the body. A buildup of uric acid can cause kidney stones, bladder stones, and gout.</p><p>It is unclear how pathogenic variants in the PRPS1 gene are related to the neurological problems that are associated with severe PRS superactivity. It could be that the abnormal version of the enzyme is more likely to be broken down in nerve cells, causing these cells to produce fewer nucleotides.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Phosphoribosylpyrophosphate synthetase superactivity?"},{"bodyHtml":"<p>There are two forms of PRS superactivity, a severe form that begins in infancy or early childhood, and a milder form that typically appears in late adolescence or early adulthood. In both forms, a kidney or bladder stone is often the first symptom. Gout and impairment of kidney function may develop if the condition is not adequately controlled with medication and dietary restrictions. People with the severe form may also have neurological problems, including hearing loss caused by changes in the inner ear (sensorineural hearing loss), weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"phosphoribosylpyrophosphate-synthetase-superactivity","sourceDocuments":[{"name":"Phosphoribosylpyrophosphate synthetase superactivity","reviewed":"2009-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:13.330004+00:00","label":"Causes","pageSha256":"6463a78a711669a9ea141ea69e5f19e27edfafbdddaa8a2d6c23bfd4e536617a","sourceUrl":"https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Phosphoribosylpyrophosphate synthetase superactivity"},"schemaVersion":1}