Ear, nose, and throat manifestations of alkaptonuria patients from Jordan

Objective: Alkaptonuria (AKU) is a rare inborn error of metabolism that is characterized as a multisystem disease with specific ear, nose, and throat (ENT) manifestations. The present study reports ENT findings in pediatric and adult AKU patients from Jordan. Materials and Methods: A full ENT examination and audiological assessment were conducted among the patients attending the AKU Research Office in our University. Results: The results showed that 88% of both pediatrics and adult patients had ENT signs or symptoms; while, the pediatric age group had only one sign that is the discoloration of the cerumen. The adult group had more than one sign, including the discoloration of cerumen and pinna, hearing loss, and discoloration of the gum and teeth. Conclusion: Discoloration of the cerumen is a common sign in pediatric patients; therefore, it is considered as an important early clinical sign for the diagnosis of AKU. Annual follow-up of pediatric patients with audiological assessment is needed to clarify the association between AKU and hearing loss. Otolaryngologist should be aware of these signs for early diagnosis and provide patients early treatment with nitisinone.