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Novel Diagnostics in Revision Arthroplasty: Implant Sonication and Multiplex Polymerase Chain Reaction
Published on: December 3, 2017
[Alkaptonuria detected during knee arthroplasty treatment]
Christian Kaare Paaskesen1, Christian Hofbauer
1Chpaa18@student.sdu.dk.
Alkaptonuria (AKU), a rare metabolic disorder, causes significant cartilage damage and joint pain. This case report highlights AKU discovery in two brothers undergoing hip and knee arthroplasty.
Area of Science:
- Biochemistry
- Genetics
- Rheumatology
Background:
- Alkaptonuria (AKU) is a rare autosomal-recessive disorder affecting tyrosine metabolism.
- It results from mutations in the homogentisate dioxygenase gene, leading to homogentisic acid accumulation.
- This accumulation causes severe, multisystemic disease, particularly damaging cartilage and leading to joint degeneration.
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