Journal Article

Alkaptonuria Diagnosis Following a Discectomy: A Case Report

Alshehri, Abdullah, Abaalkhail, Majed, Alhelal, Fahad, Alissa, Sami, Almuhana, Alanoud, Alzahrani, Renad M, Alotaibi, Fay A, Alsaeed, Abdullah

2023

Overview

Alkaptonuria is a rare genetic disorder characterized by the excessive production of homogentisic acid, leading to the formation and deposition of pigment polymers throughout the body. It is extremely rare, affecting only around one in 100,000 individuals. Despite the normal life expectancy, it can cause severe morbidities. Alkaptonuria is typically managed supportively with pain medication, dietary modifications, and surgical interventions, which are considered to be the gold standard of therapy. Here we present a case of a 33-year-old male with no previous medical or surgical history who presented with severe acute back pain radiating to the left leg. Genetic testing confirmed a homozygous pathogenic variant for alkaptonuria. This case highlights the challenges in diagnosing alkaptonuria, emphasizing the significance of early detection, and clinical evaluation for improved outcomes. Furthermore, it underscores the need to consider alkaptonuria as a multidimensional disease, necessitating further research to enhance our understanding and develop effective management. Therefore, this study serves as an opportunity for future trials and studies aimed at digging deeper into the intricacies of alkaptonuria to increase our understanding and establish comprehensive management plans for affected individuals.

• Publisher: Springer Nature B.V,Cureus
• Subject: Acids / Arthritis / Asymptomatic / Back pain / Bone surgery / Calcification / Cartilage / Case reports / Chromatography / Connective tissue / Enzymes / Genetic counseling / Genetic testing / Males / Medical diagnosis / Medical imaging / Metabolism / Orthopedics / Patients / Urine