Akademik Veri Yönetim Sistemi
REVISTA BRASILEIRA DE OTORRINOLARINGOLOGIA (ENGLISH ED.), cilt.88, sa.1, ss.163-165, 2022 (SCI-Expanded)
Alkaptonuria is a rare autosomal recessive disease, which is caused by mutations in the homogentisate 1.2-dioxygenase gene on chromosome 3q13.1 This metabolic disorder results from the deficiency of homogentisic acid (HGA) oxidase that is responsible for the breakdown of HGA, an intermediate product in the tyrosine degradation pathway.2 The consequent increase in levels of HGA causes polymerization and accumulation of a melanin-like pigment that is selectively deposited in connective tissues.3 This pigment has a high affinity for skin, bone, and mucosal surfaces, hyaline cartilages, intervertebral discs, skin, sclera, and the concha and helix of the ear.4, 5 Otologic involvement has previously been described by one study and limited number case reports.5, 6
We report systemic, otoscopic and audiological findings for a patient with alkaptonuria. Interestingly, otoscopic examination revealed symmetrical auricular involvement and unilateral tympanic membrane involvement.