Adequacy of nitisinone for the management of alkaptonuria

Abbas, Khawar; Basit, Jawad; Rehman, Mohammad Ebad Ur

doi:10.1016/j.amsu.2022.104340

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2023

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“…The progression of AKU is faster in men than in women 1 2. Symptomatic treatment is the usual treatment of AKU, but recently, the efficacy of nitisinone on improvement of disease morbidity has been demonstrated 5…”

Section: Introductionmentioning

confidence: 99%

Arthroscopic ankle arthrodesis in two alkaptonuria patients

Tomonaga,

Yoshimura,

Kanazawa

et al. 2023

BMJ Case Rep

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Alkaptonuria is a very rare disorder in which homogentisic acid accumulates due to a deficiency in the activity of homogentisic acid 1,2 dioxygenase. This deficiency results in deposition of a yellowish–brown pigment in connective tissue. Such deposition is termed ‘ochronosis’ and leads to deterioration in the formation and structure of proteoglycans in hyaline cartilage. These actions lead to fragmentation and rapid destructive arthritis. Often, ochronotic arthritis appears at 40–60 years of age, and many patients are treated symptomatically. Here, we report two patients (three ankles) with ochronotic arthritis who were treated with ankle arthrodesis. In all cases, the postoperative clinical score improved, but the time needed for fusion was prolonged and symptomatic subtalar arthropathy developed in the early postoperative period.

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Section: Introductionmentioning

confidence: 99%