[Alkaptonuria detected during knee arthroplasty treatment].

Abstract excerpt

Alkaptonuria (AKU) is a rare autosomal-recessive disease in the tyrosine metabolism pathway. AKU is due to a mutation of a gene coding for homogentisate dioxygenase, causing accumulation of homogentisic acid leading to a painful multisystemic disease. Damage to cartilage tissue is especially significant, and weight-bearing joints often require arthroplasty. Nitisinone, a drug already used in treatment of...

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