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Tag: Rare kidney disease

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What is adenine deficiency?

4 min read
Affecting approximately 1 in 50,000 to 100,000 individuals in Caucasian populations, adenine deficiency is a rare metabolic disorder that primarily impacts the kidneys. Caused by mutations in the *APRT* gene, this inherited condition disrupts adenine metabolism, leading to the accumulation of a toxic byproduct that can cause severe health problems if left untreated.