Ochronotic knee in a patient with Alkaptonuria
Keywords:
Alkaptonuria, Ochronosis, Arthritis.Abstract
A patient with a not known history of alkaptonuria was admitted for knee osteoarthritis and total joint replacement treatment. During the operation the dark colour of the knee cartilage resembled the clinical manifestation of Ochronosis. Postoperatively the patient was informed and laboratory and imaging studies put the diagnosis of Alkaptonuria. Alkaptonuria is a rare metabolic disorder affecting the connective tissue. Ill patients are usually suffering from joint arthritis and seek for orthopaedic advice and treatment.
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References
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2. Garrod AE. “The incidence of alkaptonuria: a study in clinical individuality”. Lancet. 1902, 2 (4137): 1616–20. Reproduced in: Garrod AE. “The incidence of alkaptonuria: a study in chemical individuality. 1902 classical article”. Yale Journal of Biology and Medicine 2002,75 (4): 221–31.
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10. Ranganath LR, Jarvis JC, Gallagher JA. “Recent advances in management of alkaptonuria (invited review; best practice article)”. J Clin Pathol. 2013, 66 (5): 367–73.
11. Speeckaert R, Van Gele M, Speeckaert MM, Lambert J, van Geel N. “The biology of hyperpigmentation syndromes”. Pigment Cell Melanoma Res 2014, 27 (4): 512–24.
12. Lindner M, Bertelmann T. “On the ocular findings in ochronosis: a systematic review of literature”. BMC Ophthalmology 2014, 14 (1): 12.
13. https://www.ema.europa.eu/en/news/first-treatment-rare-metabolic-disorder-alkaptonuria
2. Garrod AE. “The incidence of alkaptonuria: a study in clinical individuality”. Lancet. 1902, 2 (4137): 1616–20. Reproduced in: Garrod AE. “The incidence of alkaptonuria: a study in chemical individuality. 1902 classical article”. Yale Journal of Biology and Medicine 2002,75 (4): 221–31.
3. Garrod AE. “The Croonian lectures on inborn errors of metabolism: lecture II: alkaptonuria”. Lancet 1908, 2 (4428): 73–79.
4. Garrod AE. Inborn errors of metabolism. Oxford University Press, 1909.
5. Kean S. The Violinist’s thumb. Clipper Large Print Publications 2013, 57-58.
6. Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D. “The molecular basis of alkaptonuria”. Nature Genetics 1996, 14 (1): 19–24.
7. Stenn FF, Milgram JW, Lee SL, Weigand RJ, Veis A. “Biochemical identification of homogentisic acid pigment in an ochronotic Egyptian mummy”. Science 1977 (4303): 566–68.
8. Lee, SL. Stenn, FF. “Characterization of mummy bone ochronotic pigment”. JAMA 1978, 240 (2): 136–38.
9. La Du BN, Zannoni VG, Laster L, Seegmiller JE. “The nature of the defect in tyrosine metabolism in alcaptonuria”. Journal of Biological Chemistry 1958, 230 (1): 251–60.
10. Ranganath LR, Jarvis JC, Gallagher JA. “Recent advances in management of alkaptonuria (invited review; best practice article)”. J Clin Pathol. 2013, 66 (5): 367–73.
11. Speeckaert R, Van Gele M, Speeckaert MM, Lambert J, van Geel N. “The biology of hyperpigmentation syndromes”. Pigment Cell Melanoma Res 2014, 27 (4): 512–24.
12. Lindner M, Bertelmann T. “On the ocular findings in ochronosis: a systematic review of literature”. BMC Ophthalmology 2014, 14 (1): 12.
13. https://www.ema.europa.eu/en/news/first-treatment-rare-metabolic-disorder-alkaptonuria
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2023-06-26
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