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Management strategies include ensuring adequate protein intake (1.2-1.6 g/kg ideal body weight daily), maintaining proper hydration, considering dose adjustment or delayed escalation, engaging in regular physical activity, and working with a registered dietitian
Although ACG normally codes for threonine, in the PRPS1L1 mRNA this alternative start codon directs the initiator methionine for the encoded protein
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Over time, as the body adapts, the symptoms might decrease in intensity
After her weight rose from about 50kg at university to 72kg in 2024, the medication helped her lose about 8kg in the first six months, bringing her weight down to about 60kg