<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Background</h3><p>Alkaptonuria is a rare genetic metabolic disorder due to deficiency of homogentisate 1,2-dioxygenase (HGD), an enzyme catalyzing the conversion of homogentisate to 4-maleylacetoacetate in the pathway for the catabolism of phenylalanine and tyrosine. HGD deficiency results in accumulation of homogentisic acid and its pigmented polymer. Ochronosis is a bluish-black discoloration due to the deposition of the polymer in collagenous tissues. Extensive ochronotic involvement of the Achilles tendon in alkaptonuria and its surgical treatment is rarely reported.</p></sec>
<sec><h3>Case report</h3><p>A 43-year-old man presented to our clinic in March 2019 with sudden onset of left Achilles tendon pain with no history of prior trauma. Surgical exploration revealed a complete disruption of the tendon at its attachment to the calcaneus. Black pigmentation was extensive and reached the calcaneal tuberosity, extending about 7 cm from the insertion.</p></sec>
<sec><h3>Discussion</h3><p>Achilles reconstruction was performed using flexor hallucis longus tendon transfer. The patient experienced uncomplicated healing with satisfactory functional results.</p></sec>
<sec><h3>Conclusion</h3><p>Orthopedic surgeons should be aware of the progressive nature of alkaptonuria. Extensive degenerative changes of the ruptured tendon should be suspected so that physicians can plan tendon repair and facilitate prompt surgical intervention.</p></sec>
</abstract>

BackgroundAlkaptonuria is a rare genetic metabolic disorder due to deficiency of homogentisate 1,2-dioxygenase (HGD), an enzyme catalyzing the conversion of homogentisate to 4-maleylacetoacetate in the pathway for the catabolism of phenylalanine and tyrosine. HGD deficiency results in accumulation of homogentisic acid and its pigmented polymer. Ochronosis is a bluish-black discoloration due to the deposition of the polymer in collagenous tissues. Extensive ochronotic involvement of the Achilles tendon in alkaptonuria and its surgical treatment is rarely reported.
Case reportA 43-year-old man presented to our clinic in March 2019 with sudden onset of left Achilles tendon pain with no history of prior trauma. Surgical exploration revealed a complete disruption of the tendon at its attachment to the calcaneus. Black pigmentation was extensive and reached the calcaneal tuberosity, extending about 7 cm from the insertion.
DiscussionAchilles reconstruction was performed using flexor hallucis longus tendon transfer. The patient experienced uncomplicated healing with satisfactory functional results.
ConclusionOrthopedic surgeons should be aware of the progressive nature of alkaptonuria. Extensive degenerative changes of the ruptured tendon should be suspected so that physicians can plan tendon repair and facilitate prompt surgical intervention.

Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review

Department of Biochemistry and Molecular Biology, Faculty of Medicine

Department of Urology, Prince Hussein Urology Center, Jordanian Royal Medical Services

Department of Radiology, Jordanian Royal Medical Services

Department of Orthopedics and Trauma, Jordanian Royal Medical Services

Department of Anatomy and Histology, School of Medicine

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

BackgroundAlkaptonuria is a rare genetic metabolic disorder due to deficiency of homogentisate 1,2-dioxygenase (HGD), an enzyme catalyzing the conversion of...

Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review

Article Category: Clinical report

Publicado en línea: 30 jun 2021

Páginas: 129 - 136

DOI: https://doi.org/10.2478/abm-2021-0016

Palabras clave
Achilles tendon, alkaptonuria, homogentisic acid, ochronosis, rupture

© 2021 Nesrin Mwafi et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review

Article Category: Clinical report

Publicado en línea: 30 jun 2021

Páginas: 129 - 136

DOI: https://doi.org/10.2478/abm-2021-0016

Palabras claveAchilles tendon, alkaptonuria, homogentisic acid, ochronosis, rupture

© 2021 Nesrin Mwafi et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Palabras clave
Achilles tendon, alkaptonuria, homogentisic acid, ochronosis, rupture