Alkaptonuria – Past, present and future

Davison, Andrew S.; Norman, Brendan P.

doi:10.1016/bs.acc.2023.02.005

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Cited by 5 publications

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“…Although alkaptonuria does not require any specific treatment, nitisinone is considered a promising remedy. [ 17 ] Nitisinone is an inhibitor of 4-hydroxyphenylpyruvate dioxygenase, which converts HGA to pyruvic acid. Nitisinone has been approved for the treatment of alkaptonuria in Europe, as it slows the progression of symptoms.…”

Section: Discussionmentioning

confidence: 99%

Black Bone Disease: Ochronotic Arthritis Detected during Knee Arthroplasty

Kang,

Kim,

et al. 2023

J Bone Metab

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Alkaptonuria is an extremely rare autosomal recessive metabolic disorder characterized by dark urine, ochronosis, and arthritis of the spine and major joints. We report a case of ochronotic arthritis observed during total knee replacement surgery in a 65-year-old male patient with no relevant medical history. Based on a literature review, this is the first case of ochronotic arthritis reported in Korea.

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Section: Discussionmentioning

confidence: 99%