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Biosynthesis of Nucleotides Biosynthesis of Nucleotides - Ecu

Biosynthesis of Nucleotides Biosynthesis of Nucleotides - Ecu

Biosynthesis of Nucleotides Biosynthesis of Nucleotides - Ecu

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Lesch-Nyhan Syndrome:• Described by William Nyhan and MichaelLesch in 1964.• Hereditary deficiency <strong>of</strong> hypoxanthine-guaninephosphoribosyltransferase. Disease affectsmostly males.• Hypoxanthine and guanine are degraded touric acid instead <strong>of</strong> being converted to IMPand GMP.• Symptoms: mental retardation; spasticity;bizarre tendency to self-mutilate.

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