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VOLUME 16 , ISSUE 1 ( January-April, 2024 ) > List of Articles


Feeling Blue? It Might Just be Alkaptonuria

Anita Pauperio, Cláudia Santos, Mariana Neto, Sofia Teles, Helena Rosa, Luis Antunes

Keywords : Alkaptonuria, Blue, Cartilage, Case report, Homogentisic acid, Genetics, Nitisone, Ochronosis

Citation Information : Pauperio A, Santos C, Neto M, Teles S, Rosa H, Antunes L. Feeling Blue? It Might Just be Alkaptonuria. Int J Otorhinolaryngol Clin 2024; 16 (1):55-56.

DOI: 10.5005/jp-journals-10003-1489

License: CC BY-NC 4.0

Published Online: 11-04-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Aim: Report a case of alkaptonuria diagnosed following consultation with an otolaryngologist. Background: Alkaptonuria is a rare genetic disorder with an autosomal recessive inheritance pattern that leads to an increase in homogentisic acid (HGA). Our aim is to raise awareness about the otolaryngology manifestations of the disease and the treatment of this disease. Case description: A 75-year-old woman presented to an ear, nose, and throat (ENT) consultation with a history of progressive bilateral hearing loss and tinnitus. She had a history of joint pain and morning stiffness, which had previously been attributed to osteoarthritis. Physical examination revealed hyperpigmentation of the conchae, sclerae, and both hands. Laboratory tests showed significantly elevated levels of HGA in her urine, leading to a diagnosis of alkaptonuria. Conclusion and clinical significance: Alkaptonuria is a rare genetic disorder that can present with a variety of symptoms, including joint and cardiovascular problems. This case highlights the significance of recognizing unusual symptoms, such as blue discoloration of the ears, as potential indicators of alkaptonuria.

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