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Aku Presentation by pasia.seiralyn is a document available to read on EtoBox.
Alkaptonuria is a rare inherited metabolic disorder caused by a deficiency in homogentisic acid oxidase, leading to the accumulation of homogentisic acid and resulting in dark urine, ochronosis, and degenerative arthritis. The disease follows an autosomal recessive inheritance pattern and has an estimated prevalence of 1 in 250,000 to 1 in 1,000,000 live births, with higher rates in specific regions. Clinical manifestations progress through three stages: asymptomatic chemical stage, symptomatic ochronotic s
- Author
- pasia.seiralyn
- Language
- EN