Phosphoribosyl pyrophosphate synthase superactivity (Q97745): Difference between revisions
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A hiperatividade da fosforribosilpirofosfato (PRPP) sintetase é um distúrbio raro do metabolismo das purinas, ligado ao cromossomo X, no qual a atividade excessiva da fosforibosilpirofosfato sintetase (PRS) resulta em síntese acelerada de nucleotídeo purina e ácido úrico. Nos homens afetados, o quadro clínico coemça no final da adolescência ou no início da idade adulta, a artrite gotosa e os cálculos do trato urinário são geralmente as únicas manifestações da hiperatividade do PRS. | |||
| description / en | description / en | ||
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is a rare X chromosome-linked disorder of purine metabolism in which excessive Phosphoribosyl Pyrophosphate Synthetase (PRS) activity results in accelerated purine nucleotide and uric acid synthesis. In affected men presenting in late adolescence or early adulthood, gouty arthritis and urinary tract stones are usually the sole manifestations of PRS superactivity. | |||
Revision as of 13:52, 16 August 2026
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is a rare X chromosome-linked disorder of purine metabolism in which excessive Phosphoribosyl Pyrophosphate Synthetase (PRS) activity results in accelerated purine nucleotide and uric acid synthesis. In affected men presenting in late adolescence or early adulthood, gouty arthritis and urinary tract stones are usually the sole manifestations of PRS superactivity.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1484121955 |
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| English | Phosphoribosyl pyrophosphate synthase superactivity |
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is a rare X chromosome-linked disorder of purine metabolism in which excessive Phosphoribosyl Pyrophosphate Synthetase (PRS) activity results in accelerated purine nucleotide and uric acid synthesis. In affected men presenting in late adolescence or early adulthood, gouty arthritis and urinary tract stones are usually the sole manifestations of PRS superactivity. |
